Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
CNTNAP2-RELATED DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	163681	CNTNAP2	Unknown	16571880	Orphanet	Cell adhesion molecules
CONTACTIN ASSOCIATED PROTEIN 2-RELATED DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	C5575702	CNTNAP2	Unknown	—	Disgenet	Cell adhesion molecules
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	C5779964 MONDO:0100062	ANO4	Causal	—	Disgenet	Efferocytosis Stimuli-sensing channels
		ARHGEF15	Causal	—	Disgenet	NRAGE signals death through JNK Rho GTPase cycle G alpha (12/13) signalling events
		BSCL2	Causal	—	Disgenet	—
		CACNA1E	Causal	—	ClinGen, Disgenet	MAPK signaling pathway Calcium signaling pathway Type II diabetes mellitus +2 more
		CACNA2D2	Causal	—	Disgenet	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +8 more
		CDKL5	Causal	—	Disgenet	—
		DNM1	Causal	—	ClinGen	Phospholipase D signaling pathway Endocytosis Synaptic vesicle cycle +9 more
		GNAO1	Causal	—	ClinGen, Disgenet	Rap1 signaling pathway Hormone signaling Circadian entrainment +21 more
		GOT2	Causal	—	Disgenet	Arginine biosynthesis Alanine, aspartate and glutamate metabolism Cysteine and methionine metabolism +13 more
		HCN1	Causal	—	Disgenet	GnRH secretion HCN channels
		KCNB1	Causal	—	Disgenet	Voltage gated Potassium channels Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
		KCNC2	Causal	—	ClinGen, Disgenet	Voltage gated Potassium channels Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
		KCNH5	Causal	—	Disgenet	Voltage gated Potassium channels
		KCNQ2	Causal	—	Disgenet	Cholinergic synapse Voltage gated Potassium channels
		PIGP	Causal	—	Disgenet	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
		PIGQ	Causal	—	Disgenet	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
		SCN1A	Causal	—	Disgenet	Dopaminergic synapse Phase 0 - rapid depolarisation
		SCN2A	Causal	—	Disgenet	Taste transduction Phase 0 - rapid depolarisation
		SCN3A	Causal	—	ClinGen, Disgenet	Taste transduction Phase 0 - rapid depolarisation
		SCN8A	Causal	—	Disgenet	Phase 0 - rapid depolarisation
		SLC25A22	Causal	—	ClinGen, Disgenet	Organic anion transporters
		SNAP25	Causal	—	Disgenet	Synaptic vesicle cycle Insulin secretion Serotonin Neurotransmitter Release Cycle +10 more
		SPTAN1	Causal	—	ClinGen, Disgenet	Apoptosis Cytoskeleton in muscle cells Caspase-mediated cleavage of cytoskeletal proteins +5 more
		ST3GAL3	Causal	—	Disgenet	Various types of N-glycan biosynthesis Other types of O-glycan biosynthesis Mannose type O-glycan biosynthesis +8 more
		STXBP1	Causal	—	ClinGen, Disgenet	Synaptic vesicle cycle Serotonin Neurotransmitter Release Cycle Norepinephrine Neurotransmitter Release Cycle +4 more
		ALG13	Unknown	—	ClinGen, Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
		CUX2	Unknown	—	ClinGen, Disgenet	—
		DEPDC5	Unknown	—	Disgenet	mTOR signaling pathway Amino acids regulate mTORC1
		DOCK7	Unknown	—	ClinGen	MET activates RAP1 and RAC1 Factors involved in megakaryocyte development and platelet production
		FGF12	Unknown	—	ClinGen	Phase 0 - rapid depolarisation
		FRRS1L	Unknown	—	ClinGen	—
		GABRA2	Unknown	—	Disgenet	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +4 more
		GABRB1	Unknown	—	ClinGen	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling Serotonergic synapse +4 more
		GABRB3	Unknown	—	ClinGen	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling Serotonergic synapse +4 more
		GLUL	Unknown	—	ClinGen	Arginine biosynthesis Alanine, aspartate and glutamate metabolism Glyoxylate and dicarboxylate metabolism +8 more
		ITPA	Unknown	—	ClinGen, Disgenet	Purine metabolism Drug metabolism - other enzymes Metabolic pathways +2 more
		KCNA2	Unknown	—	ClinGen	Voltage gated Potassium channels
		MAST3	Unknown	—	Disgenet	—
		NECAP1	Unknown	—	ClinGen	Golgi Associated Vesicle Biogenesis Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis
		PACS2	Unknown	—	ClinGen	—
		PLCB1	Unknown	—	ClinGen	Inositol phosphate metabolism Metabolic pathways Rap1 signaling pathway +67 more
		SCN1B	Unknown	—	ClinGen	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
		SLC12A5	Unknown	—	ClinGen, Disgenet	GABAergic synapse Cation-coupled Chloride cotransporters
		SLC32A1	Unknown	—	Disgenet	Synaptic vesicle cycle Retrograde endocannabinoid signaling GABAergic synapse +4 more
		SNF8	Unknown	—	Disgenet	Endocytosis Endosomal Sorting Complex Required For Transport (ESCRT) HCMV Late Events
		SV2A	Unknown	—	Disgenet	ECM-receptor interaction Toxicity of botulinum toxin type D (BoNT/D) Toxicity of botulinum toxin type A (BoNT/A) +2 more
		SYNJ1	Unknown	—	ClinGen	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +4 more
		SZT2	Unknown	—	ClinGen, Disgenet	Amino acids regulate mTORC1
		TNK2	Unknown	—	Disgenet	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103	619913 C5677002 MONDO:0030957	KCNC2	Causal	—	ClinVar, Disgenet, GenCC, HPO	Voltage gated Potassium channels Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 108	620115 C5774253 MONDO:0859314	MAST3	Causal	34185323	ClinVar, Disgenet, GWAS catalog, HPO	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11	613721 OMIM:613721	SCN2A	Unknown	—	CTD, HPO	Taste transduction Phase 0 - rapid depolarisation
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111	620504 C5882690 MONDO:0957780	DEPDC5	Causal	—	ClinVar, Disgenet, HPO	mTOR signaling pathway Amino acids regulate mTORC1
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112	620537 C5882700 MONDO:0957812	KCNH5	Causal	23647072 36307226	ClinVar, Disgenet, HPO	Voltage gated Potassium channels
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113	620772 C5935597 MONDO:0958330	SV2A	Causal	37985816	ClinVar, Disgenet, HPO	ECM-receptor interaction Toxicity of botulinum toxin type D (BoNT/D) Toxicity of botulinum toxin type A (BoNT/A) +2 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114	620774 C5935598 MONDO:0958331	SLC32A1	Causal	34038384 36073542	ClinVar, Disgenet, GWAS catalog, HPO	Synaptic vesicle cycle Retrograde endocannabinoid signaling GABAergic synapse +4 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115	620783 C5935604 MONDO:0968946	SNF8	Causal	38423010	ClinVar, Disgenet, HPO, Orphanet	Endocytosis Endosomal Sorting Complex Required For Transport (ESCRT) HCMV Late Events
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116	620806 C5935615 MONDO:0970945	GLUL	Causal	—	ClinVar, Disgenet, GenCC, HPO	Arginine biosynthesis Alanine, aspartate and glutamate metabolism Glyoxylate and dicarboxylate metabolism +8 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 117	616330	SNAP25	Unknown	—	HPO	Synaptic vesicle cycle Insulin secretion Serotonin Neurotransmitter Release Cycle +10 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 12	C3150988 613722 OMIM:613722	KCNH5	Unknown	—	Disgenet	Voltage gated Potassium channels
		PLCB1	Unknown	—	CTD, Disgenet, HPO	Inositol phosphate metabolism Metabolic pathways Rap1 signaling pathway +67 more
		SCN2A	Unknown	—	Disgenet	Taste transduction Phase 0 - rapid depolarisation
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13	614558 OMIM:614558	SCN8A	Unknown	—	CTD, HPO	Phase 0 - rapid depolarisation
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15	615006 C3554316	ST3GAL3	Unknown	—	Disgenet, HPO	Various types of N-glycan biosynthesis Other types of O-glycan biosynthesis Mannose type O-glycan biosynthesis +8 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16	C3809173	GLUL	Unknown	—	Disgenet	Arginine biosynthesis Alanine, aspartate and glutamate metabolism Glyoxylate and dicarboxylate metabolism +8 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 17	615473 OMIM:615473	GNAO1	Unknown	—	CTD, HPO	Rap1 signaling pathway Hormone signaling Circadian entrainment +21 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18	615476 C3809624 OMIM:615476	SZT2	Unknown	—	CTD, Disgenet, HPO	Amino acids regulate mTORC1
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2	300672	CDKL5	Unknown	—	HPO	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 21	615833 C4014430 OMIM:615833	NECAP1	Unknown	—	CTD, Disgenet, HPO	Golgi Associated Vesicle Biogenesis Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23	615859 C4014492 OMIM:615859	DOCK7	Unknown	—	CTD, Disgenet, HPO	MET activates RAP1 and RAC1 Factors involved in megakaryocyte development and platelet production
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 24	615871 C4014531 OMIM:615871	HCN1	Unknown	—	CTD, Disgenet, HPO	GnRH secretion HCN channels
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 26	616056 C4015119 OMIM:616056	KCNB1	Unknown	—	CTD, Disgenet, HPO	Voltage gated Potassium channels Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 3	609304	SLC25A22	Unknown	—	HPO	Organic anion transporters
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 30	C4225360	SCN2A	Unknown	—	Disgenet	Taste transduction Phase 0 - rapid depolarisation
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31	C4225357	DNM1	Unknown	—	Disgenet	Phospholipase D signaling pathway Endocytosis Synaptic vesicle cycle +9 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31A	616346 OMIM:616346	DNM1	Unknown	—	CTD, HPO	Phospholipase D signaling pathway Endocytosis Synaptic vesicle cycle +9 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31B	620352 C5830459	DNM1	Unknown	—	Disgenet, HPO	Phospholipase D signaling pathway Endocytosis Synaptic vesicle cycle +9 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 32	616366 C4225350 OMIM:616366	KCNA2	Unknown	—	CTD, Disgenet, HPO	Voltage gated Potassium channels
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 34	616645 C4225257 OMIM:616645	SLC12A5	Unknown	—	CTD, Disgenet, HPO	GABAergic synapse Cation-coupled Chloride cotransporters
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35	616647 OMIM:616647	ITPA	Unknown	—	CTD, HPO	Purine metabolism Drug metabolism - other enzymes Metabolic pathways +2 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36	300884 OMIM:300884	ALG13	Unknown	—	CTD, HPO	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37	616981 C4310770 OMIM:616981	FRRS1L	Unknown	—	CTD, Disgenet, HPO	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4	612164	STXBP1	Unknown	—	HPO	Synaptic vesicle cycle Serotonin Neurotransmitter Release Cycle Norepinephrine Neurotransmitter Release Cycle +4 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 43	617113 C4310712 OMIM:617113	GABRB3	Unknown	—	CTD, Disgenet, HPO	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling Serotonergic synapse +4 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 45	617153 C4310691 OMIM:617153	GABRB1	Unknown	—	CTD, Disgenet, HPO	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling Serotonergic synapse +4 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47	617166 OMIM:617166	FGF12	Unknown	—	CTD, HPO	Phase 0 - rapid depolarisation
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5	613477 C3150731 OMIM:613477	SPTAN1	Unknown	—	CTD, Disgenet, HPO	Apoptosis Cytoskeleton in muscle cells Caspase-mediated cleavage of cytoskeletal proteins +5 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52	617350 C4479236 OMIM:617350	SCN1B	Unknown	—	CTD, Disgenet, HPO	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53	617389 C4479313 OMIM:617389	SYNJ1	Unknown	—	CTD, Disgenet, HPO	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +4 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55	617599 C4539843	PIGP	Unknown	—	Disgenet, HPO	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 62	617938 C4693699	SCN3A	Unknown	—	Disgenet, HPO	Taste transduction Phase 0 - rapid depolarisation
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64	C4693899	SCN8A	Unknown	—	Disgenet	Phase 0 - rapid depolarisation
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66	618067 C4748070	PACS2	Unknown	—	Disgenet, HPO	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67	618141 C4748341	CUX2	Unknown	—	Disgenet, HPO	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69	618285 C4748988	CACNA1E	Unknown	—	Disgenet, HPO	MAPK signaling pathway Calcium signaling pathway Type II diabetes mellitus +2 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B	619317 C5543353 MONDO:0030268	SCN1A	Causal	—	ClinVar, Disgenet, HPO	Dopaminergic synapse Phase 0 - rapid depolarisation
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 7	613720 OMIM:613720	KCNQ2	Unknown	—	CTD, HPO	Cholinergic synapse Voltage gated Potassium channels
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78	618557 C5231409	GABRA2	Unknown	—	Disgenet, HPO	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +4 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82	618721 C5231473	GOT2	Unknown	—	Disgenet, HPO	Arginine biosynthesis Alanine, aspartate and glutamate metabolism Cysteine and methionine metabolism +13 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83	C5231487	DEPDC5	Unknown	—	Disgenet	mTOR signaling pathway Amino acids regulate mTORC1
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY WITH SPIKE-WAVE ACTIVATION IN SLEEP	725	FRRS1L	Unknown	27239025	Orphanet	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 11	MONDO:0013388	SCN2A	Causal	—	ClinVar, GenCC	Taste transduction Phase 0 - rapid depolarisation
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 12	MONDO:0013389	PLCB1	Causal	20833646	CTD, ClinVar	Inositol phosphate metabolism Metabolic pathways Rap1 signaling pathway +67 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 13	MONDO:0013801	SCN8A	Causal	22365152 16236810 24352161 24874546 24888894 25239001 25568300 25725044 26235738 25799905 25951352 26235739 26252990 26553437 26677014 26933559 27210545 27659738 27875746 27900360 28084268 28676440 28702509 28923014 29121005 29128	ClinGen, ClinVar	Phase 0 - rapid depolarisation
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 15	MONDO:0014003	ST3GAL3	Causal	21907012 23252400 31584066	ClinVar, Disgenet	Various types of N-glycan biosynthesis Other types of O-glycan biosynthesis Mannose type O-glycan biosynthesis +8 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 17	MONDO:0014199	GNAO1	Causal	23993195	ClinVar, Disgenet	Rap1 signaling pathway Hormone signaling Circadian entrainment +21 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 18	MONDO:0014201	SZT2	Causal	19624305 23932106 27248490 28199315 28556953 28893434	CTD, ClinVar	Amino acids regulate mTORC1
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 2	MONDO:0010396	CDKL5	Causal	—	ClinVar, GenCC	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 21	MONDO:0014360	NECAP1	Causal	24399846 30525121 30626896	ClinVar, GWAS catalog	Golgi Associated Vesicle Biogenesis Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 23	MONDO:0014371	DOCK7	Causal	24814191	ClinVar, Disgenet	MET activates RAP1 and RAC1 Factors involved in megakaryocyte development and platelet production
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 24	MONDO:0014377	HCN1	Causal	24747641	ClinVar, Disgenet	GnRH secretion HCN channels
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 26	MONDO:0014477	KCNB1	Causal	25164438	ClinVar, GWAS catalog	Voltage gated Potassium channels Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 3	MONDO:0012245	SLC25A22	Causal	—	ClinVar, GenCC	Organic anion transporters
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 31A	MONDO:0014598	DNM1	Causal	17463283 25262651 26611353 26648591 27066543 27781031	CTD, ClinVar	Phospholipase D signaling pathway Endocytosis Synaptic vesicle cycle +9 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 31B	MONDO:0957248	DNM1	Causal	34172529 36553519	ClinVar, Disgenet	Phospholipase D signaling pathway Endocytosis Synaptic vesicle cycle +9 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 32	MONDO:0014607	KCNA2	Causal	25751627	CTD, ClinVar	Voltage gated Potassium channels
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 34	MONDO:0014718	SLC12A5	Causal	11395011 12000122 15813942 16271048 26333769 27436767	ClinVar, GWAS catalog	GABAergic synapse Cation-coupled Chloride cotransporters
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 35	MONDO:0014719	ITPA	Causal	17304144 19498443 26224535 30816001	ClinVar, GWAS catalog	Purine metabolism Drug metabolism - other enzymes Metabolic pathways +2 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 36	MONDO:0010472	ALG13	Causal	—	ClinVar, GenCC	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 37	MONDO:0014859	FRRS1L	Causal	27236917 27239025	ClinVar, Orphanet	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 4	MONDO:0012812	STXBP1	Causal	19557857 18469812 32105008 31387522 31344879 30654231 29929108 29896790 29718889 29544889 29264391 28944233 27184330 27069701 26865513 26514728 26384463 26212315 25714420 25631041 25418441 24623842 24315539 24189369 24170257 24095	ClinVar, GenCC	Synaptic vesicle cycle Serotonin Neurotransmitter Release Cycle Norepinephrine Neurotransmitter Release Cycle +4 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 43	MONDO:0014921	GABRB3	Causal	—	ClinVar, GenCC	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling Serotonergic synapse +4 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 45	MONDO:0014942	GABRB1	Causal	26950270 27273810 29186148 31618474 31780880	ClinVar, GWAS catalog	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling Serotonergic synapse +4 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 47	MONDO:0014949	FGF12	Causal	27830185 27872899 27164707	ClinVar, HPO	Phase 0 - rapid depolarisation
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 5	MONDO:0013277	SPTAN1	Causal	20493457 22258530 29050398 34590414 36331550 22429196 22656320 29986434 30548380 32811770 33206935 33207363 33578420 35150594 35219564 35620303 35925050 36408834	ClinVar, GWAS catalog	Apoptosis Cytoskeleton in muscle cells Caspase-mediated cleavage of cytoskeletal proteins +5 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 52	MONDO:0033361	SCN1B	Causal	19710327 23148524 28218389 31465153 31709768 33901312	ClinVar, GWAS catalog	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 53	MONDO:0033362	SYNJ1	Causal	10535736 25046240 25316601 27435091	ClinVar, Orphanet	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +4 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 55	MONDO:0033364	PIGP	Causal	28334793 31139695 38444886	ClinGen, ClinVar, Disgenet	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 62	MONDO:0033371	SCN3A	Causal	26795593 29286531 29466837 29740860	ClinVar, Disgenet	Taste transduction Phase 0 - rapid depolarisation
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 66	MONDO:0054845	PACS2	Causal	28628100 28867141 29656858 30684285 30904718 31036916 31231135 32416568 33243487 33369122 34405643 34894068 35770754 36645641 37189870	ClinVar, GWAS catalog	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 67	MONDO:0029138	CUX2	Causal	—	ClinVar, GenCC	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 69	MONDO:0032657	CACNA1E	Causal	—	ClinVar, GenCC	MAPK signaling pathway Calcium signaling pathway Type II diabetes mellitus +2 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 6A	MONDO:0100079	SCN1A	Causal	—	ClinVar, GenCC	Dopaminergic synapse Phase 0 - rapid depolarisation
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 7	MONDO:0013387	KCNQ2	Causal	22275249 12742592 31951342 31418850 31199083 31152295 30530441 30107960 29687029 28832002 28728838 28687180 28631195 27861786 27602407 25880994 25566516 25092550 24371303 24107868 23774309 23692823 23621294 22926866 22169383 15249	ClinVar, GWAS catalog	Cholinergic synapse Voltage gated Potassium channels
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 77	MONDO:0032808	PIGQ	Causal	10373468 24463883 25558065 31148362 32588908 9463366 9729469	ClinGen, ClinVar, GWAS catalog	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 78	MONDO:0032812	GABRA2	Causal	25124326 29422393 29961870 31032849 32347641	ClinVar, GenCC	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +4 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 82	MONDO:0032880	GOT2	Causal	28720665 31422819	ClinVar, GWAS catalog	Arginine biosynthesis Alanine, aspartate and glutamate metabolism Cysteine and methionine metabolism +13 more
EARLY INFANTILE DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	1934	CACNA1E	Unknown	30343943	Orphanet	MAPK signaling pathway Calcium signaling pathway Type II diabetes mellitus +2 more
		CDKL5	Unknown	22196487 22787626	Orphanet	—
		GNAO1	Unknown	23993195	Orphanet	Rap1 signaling pathway Hormone signaling Circadian entrainment +21 more
		PIGP	Unknown	28334793	Orphanet	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
		PIGQ	Unknown	24463883	Orphanet	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
		SCN1B	Unknown	28218389	Orphanet	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
		SCN2A	Unknown	23550958 23935176	Orphanet	Taste transduction Phase 0 - rapid depolarisation
		SLC25A22	Unknown	19780765	Orphanet	Organic anion transporters
		SLC32A1	Unknown	36073542	Orphanet	Synaptic vesicle cycle Retrograde endocannabinoid signaling GABAergic synapse +4 more
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	C0393706	ALG13	Unknown	—	Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
		ARHGEF15	Unknown	—	Disgenet	NRAGE signals death through JNK Rho GTPase cycle G alpha (12/13) signalling events
		CACNA1E	Unknown	—	Disgenet	MAPK signaling pathway Calcium signaling pathway Type II diabetes mellitus +2 more
		CDKL5	Unknown	—	Disgenet	—
		CUX2	Unknown	—	Disgenet	—
		DNM1	Unknown	—	Disgenet	Phospholipase D signaling pathway Endocytosis Synaptic vesicle cycle +9 more
		DOCK7	Unknown	—	Disgenet	MET activates RAP1 and RAC1 Factors involved in megakaryocyte development and platelet production
		FGF12	Unknown	—	Disgenet	Phase 0 - rapid depolarisation
		FRRS1L	Unknown	—	Disgenet	—
		GABRB1	Unknown	—	Disgenet	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling Serotonergic synapse +4 more
		GABRB3	Unknown	—	Disgenet	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling Serotonergic synapse +4 more
		GLUL	Unknown	—	Disgenet	Arginine biosynthesis Alanine, aspartate and glutamate metabolism Glyoxylate and dicarboxylate metabolism +8 more
		GNAO1	Unknown	—	Disgenet	Rap1 signaling pathway Hormone signaling Circadian entrainment +21 more
		ITPA	Unknown	—	Disgenet	Purine metabolism Drug metabolism - other enzymes Metabolic pathways +2 more
		KCNA2	Unknown	—	Disgenet	Voltage gated Potassium channels
		KCNC2	Unknown	—	Disgenet	Voltage gated Potassium channels Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
		NECAP1	Unknown	—	Disgenet	Golgi Associated Vesicle Biogenesis Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis
		PACS2	Unknown	—	Disgenet	—
		PIGP	Unknown	—	Disgenet	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
		PIGQ	Unknown	—	Disgenet	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
		PLCB1	Unknown	—	Disgenet	Inositol phosphate metabolism Metabolic pathways Rap1 signaling pathway +67 more
		SCN1A	Unknown	—	Disgenet	Dopaminergic synapse Phase 0 - rapid depolarisation
		SCN1B	Unknown	—	Disgenet	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
		SCN2A	Unknown	—	Disgenet	Taste transduction Phase 0 - rapid depolarisation
		SCN3A	Unknown	—	Disgenet	Taste transduction Phase 0 - rapid depolarisation
		SLC12A5	Unknown	—	Disgenet	GABAergic synapse Cation-coupled Chloride cotransporters
		SLC25A22	Unknown	—	Disgenet	Organic anion transporters
		SLC32A1	Unknown	34038384 36073542	Disgenet	Synaptic vesicle cycle Retrograde endocannabinoid signaling GABAergic synapse +4 more
		SNAP25	Unknown	—	Disgenet	Synaptic vesicle cycle Insulin secretion Serotonin Neurotransmitter Release Cycle +10 more
		SPTAN1	Unknown	—	Disgenet	Apoptosis Cytoskeleton in muscle cells Caspase-mediated cleavage of cytoskeletal proteins +5 more
		STXBP1	Unknown	—	Disgenet	Synaptic vesicle cycle Serotonin Neurotransmitter Release Cycle Norepinephrine Neurotransmitter Release Cycle +4 more
		SYNJ1	Unknown	—	Disgenet	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +4 more
		SZT2	Unknown	—	Disgenet	Amino acids regulate mTORC1
EARLY-ONSET EPILEPTIC ENCEPHALOPATHY, CORTICAL BLINDNESS, INTELLECTUAL DISABILITY, FACIAL DYSMORPHISM SYNDROME	C4750952	DOCK7	Unknown	—	Disgenet	MET activates RAP1 and RAC1 Factors involved in megakaryocyte development and platelet production
EARLY-ONSET EPILEPTIC ENCEPHALOPATHY-CORTICAL BLINDNESS-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME	411986	DOCK7	Unknown	24814191	Orphanet	MET activates RAP1 and RAC1 Factors involved in megakaryocyte development and platelet production
EPILEPTIC ENCEPHALOPATHY	C0543888	CACNA2D2	Causal	—	Disgenet	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +8 more
		CDKL5	Causal	—	Disgenet	—
		GABRB3	Causal	—	Disgenet	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling Serotonergic synapse +4 more
		HCN1	Causal	—	Disgenet	GnRH secretion HCN channels
		KCNB1	Causal	—	Disgenet	Voltage gated Potassium channels Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
		KCNQ2	Causal	—	Disgenet	Cholinergic synapse Voltage gated Potassium channels
		SCN1A	Causal	—	Disgenet	Dopaminergic synapse Phase 0 - rapid depolarisation
		SCN2A	Causal	—	Disgenet	Taste transduction Phase 0 - rapid depolarisation
		SCN8A	Causal	—	Disgenet	Phase 0 - rapid depolarisation
		SPTAN1	Causal	—	Disgenet	Apoptosis Cytoskeleton in muscle cells Caspase-mediated cleavage of cytoskeletal proteins +5 more
		STXBP1	Causal	—	Disgenet	Synaptic vesicle cycle Serotonin Neurotransmitter Release Cycle Norepinephrine Neurotransmitter Release Cycle +4 more
		TNK2	Causal	—	Disgenet	—
		ALG13	Unknown	—	Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
		DEPDC5	Unknown	—	Disgenet	mTOR signaling pathway Amino acids regulate mTORC1
		DNM1	Unknown	—	Disgenet	Phospholipase D signaling pathway Endocytosis Synaptic vesicle cycle +9 more
		GNAO1	Unknown	—	Disgenet	Rap1 signaling pathway Hormone signaling Circadian entrainment +21 more
		SCN1B	Unknown	—	Disgenet	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	C3463992	ALG13	Unknown	—	Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
		CDKL5	Unknown	—	Disgenet	—
		GABRB3	Unknown	—	Disgenet	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling Serotonergic synapse +4 more
		GNAO1	Unknown	—	Disgenet	Rap1 signaling pathway Hormone signaling Circadian entrainment +21 more
		HCN1	Unknown	—	Disgenet	GnRH secretion HCN channels
		KCNA2	Unknown	—	Disgenet	Voltage gated Potassium channels
		KCNQ2	Unknown	—	Disgenet	Cholinergic synapse Voltage gated Potassium channels
		PACS2	Unknown	—	Disgenet	—
		SCN1A	Unknown	—	Disgenet	Dopaminergic synapse Phase 0 - rapid depolarisation
		SCN8A	Unknown	—	Disgenet	Phase 0 - rapid depolarisation
		ST3GAL3	Unknown	—	Disgenet	Various types of N-glycan biosynthesis Other types of O-glycan biosynthesis Mannose type O-glycan biosynthesis +8 more
		SYNJ1	Unknown	—	Disgenet	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +4 more
		SZT2	Unknown	—	Disgenet	Amino acids regulate mTORC1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11	C3150987	SCN2A	Unknown	—	Disgenet	Taste transduction Phase 0 - rapid depolarisation
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17	C3809606	GNAO1	Unknown	—	Disgenet	Rap1 signaling pathway Hormone signaling Circadian entrainment +21 more
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3	C5574665 MESH:C562695	SLC25A22	Unknown	—	CTD, Disgenet	Organic anion transporters
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4	C2677326 MESH:C567404	CDKL5	Unknown	—	Disgenet	—
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4	C2677326 MESH:C567404	STXBP1	Unknown	—	CTD, Disgenet	Synaptic vesicle cycle Serotonin Neurotransmitter Release Cycle Norepinephrine Neurotransmitter Release Cycle +4 more
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47	C4310685	FGF12	Unknown	—	Disgenet	Phase 0 - rapid depolarisation
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7	C3150986	KCNQ2	Unknown	—	Disgenet	Cholinergic synapse Voltage gated Potassium channels
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76	C5193113	SCN1A	Unknown	—	Disgenet	Dopaminergic synapse Phase 0 - rapid depolarisation
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76	C5193113	SCN2A	Unknown	—	Disgenet	Taste transduction Phase 0 - rapid depolarisation
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	MONDO:0100062	GNAO1	Causal	23993195 25262651 25966631 26485252 27072799 27476654 28202424 28357411 28503590 28628939 28747448 29390993 9050846 9501252	GWAS catalog	Rap1 signaling pathway Hormone signaling Circadian entrainment +21 more
		SCN1B	Causal	15102918 19710327 23148524 28218389 31709768 33901312	CTD	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
		SCN2A	Causal	23550958 23935176	Orphanet	Taste transduction Phase 0 - rapid depolarisation
		ALG13	Unknown	23033978 23934111 24781210 25356970 25732998 25877686 26138355 26482601 27476654 28628100 28778787 28940310 29190809	GWAS catalog	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
		ARHGEF15	Unknown	—	GenCC	NRAGE signals death through JNK Rho GTPase cycle G alpha (12/13) signalling events
		CACNA1E	Unknown	30343943 33776624 34702355	Disgenet	MAPK signaling pathway Calcium signaling pathway Type II diabetes mellitus +2 more
		CDKL5	Unknown	22196487 22787626	GWAS catalog	—
		CUX2	Unknown	23020937 29630738 29795476 30842224 35571021 35846140	GWAS catalog	—
		DNM1	Unknown	20700442 25262651 26125563 26611353 26648591 26795593 27066543 28667181 29397573 29427836 29588952 31920647 34386584 8101525	Disgenet	Phospholipase D signaling pathway Endocytosis Synaptic vesicle cycle +9 more
		DOCK7	Unknown	22842144 24814191 30771731 30807358 31054490	GWAS catalog	MET activates RAP1 and RAC1 Factors involved in megakaryocyte development and platelet production
		FGF12	Unknown	27164707 27830185 27872899 28506426 29699863 30951195 31292943 32645220 33245860 33287870 33982289 36029553	Disgenet	Phase 0 - rapid depolarisation
		FRRS1L	Unknown	27236917 27239025 28675162 30525197 30692144 31054490 31130284 33584793 35815844 36703223	Orphanet	—
		GABRB1	Unknown	23934111 27273810 31618474 33994118 36553572 37518907 38024579 38633326 9872317	HPO	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling Serotonergic synapse +4 more
		GABRB3	Unknown	17927825 17983671 26544041 26645412 26704558 26950270 27476654 28053010 28544625 29162865 29444535	ClinGen	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling Serotonergic synapse +4 more
		GLUL	Unknown	38579670	GWAS catalog	Arginine biosynthesis Alanine, aspartate and glutamate metabolism Glyoxylate and dicarboxylate metabolism +8 more
		ITPA	Unknown	26224535 33593863 34989426	GWAS catalog	Purine metabolism Drug metabolism - other enzymes Metabolic pathways +2 more
		KCNA2	Unknown	13679409 17634333 19118165 20696761 25477152 25751627 26648591 27062609 27117551 27733563 29050392 31054490 8046438	CTD	Voltage gated Potassium channels
		KCNC2	Unknown	11124984 31972370 35314505 35366058 36035247 36087422 36090251	Disgenet	Voltage gated Potassium channels Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
		NECAP1	Unknown	24399846 30525121 30626896 32552793 35638367	ClinVar	Golgi Associated Vesicle Biogenesis Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis
		PACS2	Unknown	15692563 29656858 30684285 34642815 34894068 35770754 36645641	GWAS catalog	—
		PIGP	Unknown	28334793	GWAS catalog	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
		PIGQ	Unknown	24463883	GWAS catalog	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
		PLCB1	Unknown	24684524 30554916 31054490 31883110 9305844	Orphanet	Inositol phosphate metabolism Metabolic pathways Rap1 signaling pathway +67 more
		SCN1A	Unknown	28794249 30779207	ClinGen, ClinVar	Dopaminergic synapse Phase 0 - rapid depolarisation
		SCN3A	Unknown	10842222 18242854 27848944 28235671 29466837 30146301 32227486	GWAS catalog	Taste transduction Phase 0 - rapid depolarisation
		SLC12A5	Unknown	12000122 26333769 27436767 28477354 31618474 31780880	Disgenet	GABAergic synapse Cation-coupled Chloride cotransporters
		SLC25A22	Unknown	11897791 15592994 17847082 19780765 24596948 25033742 27652284 28255779 28454995 28620281 31054490 31285529	GWAS catalog	Organic anion transporters
		SNAP25	Unknown	12859899 17283335 25003006 25381298 2592413 29100083 33299146 9529252	CTD, ClinGen	Synaptic vesicle cycle Insulin secretion Serotonin Neurotransmitter Release Cycle +10 more
		SPTAN1	Unknown	20493457 26077850 29050398 29337302	CTD	Apoptosis Cytoskeleton in muscle cells Caspase-mediated cleavage of cytoskeletal proteins +5 more
		STXBP1	Unknown	10657302 18469812 18703708 26280581 26918652 8108429 9545644	GWAS catalog	Synaptic vesicle cycle Serotonin Neurotransmitter Release Cycle Norepinephrine Neurotransmitter Release Cycle +4 more
		SYNJ1	Unknown	10535736 25316601 27435091 29179256 32214227 32435303	Orphanet	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +4 more
		SZT2	Unknown	19624305 23932106 27248490 28556953 29696782 30818181	Orphanet	Amino acids regulate mTORC1
KCNQ2-RELATED DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	439218	KCNQ2	Unknown	20437616 23621294	Orphanet	Cholinergic synapse Voltage gated Potassium channels
KCNQ2-RELATED EPILEPTIC ENCEPHALOPATHY	C4755256	KCNQ2	Unknown	—	Disgenet	Cholinergic synapse Voltage gated Potassium channels
NEONATAL-ONSET DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	MONDO:0100455	KCNQ2	Unknown	22275249 23440208 23621294 24107868 24318194 34911751	ClinGen, Disgenet	Cholinergic synapse Voltage gated Potassium channels
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	442835 C5680057	DEPDC5	Unknown	36067010	Orphanet	mTOR signaling pathway Amino acids regulate mTORC1
		DNM1	Unknown	25262651 25533962	Disgenet, Orphanet	Phospholipase D signaling pathway Endocytosis Synaptic vesicle cycle +9 more
		FGF12	Unknown	27164707	Disgenet, Orphanet	Phase 0 - rapid depolarisation
		GABRA2	Unknown	31032849	Disgenet, Orphanet	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +4 more
		HCN1	Unknown	24747641 25678871	Disgenet, Orphanet	GnRH secretion HCN channels
		KCNA2	Unknown	25751627	Disgenet, Orphanet	Voltage gated Potassium channels
		KCNB1	Unknown	25164438	Disgenet, Orphanet	Voltage gated Potassium channels Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
		KCNC2	Unknown	35314505	Disgenet, Orphanet	Voltage gated Potassium channels Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
		KCNH5	Unknown	36307226	Orphanet	Voltage gated Potassium channels
		NECAP1	Unknown	24399846	Disgenet, Orphanet	Golgi Associated Vesicle Biogenesis Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis
		PACS2	Unknown	29656858	Disgenet, Orphanet	—
		SCN1A	Unknown	24776920	Disgenet, Orphanet	Dopaminergic synapse Phase 0 - rapid depolarisation
		SCN1B	Unknown	19710327 23148524 28218389 31465153 31709768 33901312	Disgenet	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
		SCN3A	Unknown	29466837	Disgenet, Orphanet	Taste transduction Phase 0 - rapid depolarisation
		SCN8A	Unknown	22365152 23708187	Disgenet, Orphanet	Phase 0 - rapid depolarisation
		STXBP1	Unknown	—	Disgenet	Synaptic vesicle cycle Serotonin Neurotransmitter Release Cycle Norepinephrine Neurotransmitter Release Cycle +4 more
		SYNJ1	Unknown	27435091	Disgenet, Orphanet	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +4 more
		SZT2	Unknown	23932106	Disgenet, Orphanet	Amino acids regulate mTORC1
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	MONDO:0018614	SCN8A	Causal	22365152 23708187	GWAS catalog	Phase 0 - rapid depolarisation
		DNM1	Unknown	25262651 25533962	Disgenet	Phospholipase D signaling pathway Endocytosis Synaptic vesicle cycle +9 more
		FGF12	Unknown	27164707	Disgenet	Phase 0 - rapid depolarisation
		GABRA2	Unknown	31032849	Orphanet	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +4 more
		HCN1	Unknown	24747641 25678871	CTD	GnRH secretion HCN channels
		KCNA2	Unknown	25751627	Orphanet	Voltage gated Potassium channels
		KCNB1	Unknown	25164438	Disgenet	Voltage gated Potassium channels Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
		KCNQ2	Unknown	15608631 20437616 22275249 23440208 23621294 25954001 26007637 28100740	GWAS catalog	Cholinergic synapse Voltage gated Potassium channels
		NECAP1	Unknown	24399846	CTD	Golgi Associated Vesicle Biogenesis Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis
		SCN3A	Unknown	29466837	CTD	Taste transduction Phase 0 - rapid depolarisation
		STXBP1	Unknown	26865513	ClinVar	Synaptic vesicle cycle Serotonin Neurotransmitter Release Cycle Norepinephrine Neurotransmitter Release Cycle +4 more
		SYNJ1	Unknown	27435091	Disgenet	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +4 more
		SZT2	Unknown	23932106	GWAS catalog	Amino acids regulate mTORC1

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Developmental and epileptic encephalopathy

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