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	MONDO:0100062 C5779964	ABAT	Unknown	—	ClinGen	Alanine, aspartate and glutamate metabolism Valine, leucine and isoleucine degradation beta-Alanine metabolism +5 more
		ALG13	Unknown	—	ClinGen, Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
		CSTB	Unknown	—	ClinGen	Neutrophil degranulation
		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
		GRIA3	Unknown	—	Disgenet	cAMP signaling pathway Neuroactive ligand-receptor interaction Circadian entrainment +15 more
		ITPA	Unknown	—	ClinGen, Disgenet	Purine metabolism Drug metabolism - other enzymes Metabolic pathways +2 more
		KCNA2	Unknown	—	ClinGen	Voltage gated Potassium channels
		KCNQ3	Unknown	—	ClinGen	Cholinergic synapse 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
		RYR3	Unknown	—	ClinGen	Calcium signaling pathway Apelin signaling pathway Circadian entrainment +8 more
		SCN1B	Unknown	—	ClinGen	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
		SEC24C	Unknown	—	Disgenet	Protein processing in endoplasmic reticulum Pathogenic Escherichia coli infection COPII-mediated vesicle transport +3 more
		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	—
		WWOX	Unknown	—	ClinGen	Nuclear signaling by ERBB4 Negative regulation of activity of TFAP2 (AP-2) family transcription factors Activation of the TFAP2 (AP-2) family of transcription factors
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1	308350	ARX	Unknown	—	HPO	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 106	C5774212	CFAP96	Unknown	—	Disgenet	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 107	620033 C5774215 MONDO:0031055	NAPB	Unknown	33189936 26235277 28097321	Disgenet, HPO	COPII-mediated vesicle transport COPI-mediated anterograde transport COPI-dependent Golgi-to-ER retrograde traffic +2 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11	613721 OMIM:613721	SCN2A	Unknown	—	CTD, HPO	Taste transduction Phase 0 - rapid depolarisation
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
		PNKP	Unknown	—	Disgenet	Base excision repair APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway
		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 14	C3554195 614959 OMIM:614959	CELF2	Unknown	—	Disgenet	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14	C3554195 614959 OMIM:614959	KCNT1	Unknown	—	CTD, Disgenet, HPO	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15	C3554316 615006	KCNT1	Unknown	—	Disgenet	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15	C3554316 615006	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 615338	GLUL	Unknown	—	Disgenet	Arginine biosynthesis Alanine, aspartate and glutamate metabolism Glyoxylate and dicarboxylate metabolism +8 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16	C3809173 615338	TBC1D24	Unknown	—	Disgenet, HPO	TBC/RABGAPs
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	C3809624 615476 OMIM:615476	HYI	Unknown	—	Disgenet	Glyoxylate and dicarboxylate metabolism Metabolic pathways
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18	C3809624 615476 OMIM:615476	SZT2	Unknown	—	CTD, Disgenet, HPO	Amino acids regulate mTORC1
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 19	615744 C3810400 OMIM:615744	GABRA1	Unknown	—	CTD, Disgenet, HPO	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +4 more
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	C4014492 615859 OMIM:615859	ANGPTL3	Unknown	—	Disgenet	Cholesterol metabolism Assembly of active LPL and LIPC lipase complexes NR1H2 & NR1H3 regulate gene expression linked to lipogenesis
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23	C4014492 615859 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 28	616211 OMIM:616211	WWOX	Unknown	—	CTD, HPO	Nuclear signaling by ERBB4 Negative regulation of activity of TFAP2 (AP-2) family transcription factors Activation of the TFAP2 (AP-2) family of transcription factors
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 30	C4225360	SCN2A	Unknown	—	Disgenet	Taste transduction Phase 0 - rapid depolarisation
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 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 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 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 78	618557 C5231409	GABRA2	Unknown	—	Disgenet, HPO	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +4 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83	C5231487	DEPDC5	Unknown	—	Disgenet	mTOR signaling pathway Amino acids regulate mTORC1
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97	C5561999	KCNT1	Unknown	—	Disgenet	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY WITH SPIKE-WAVE ACTIVATION IN SLEEP	725	FRRS1L	Unknown	27239025	Orphanet	—
EARLY INFANTILE DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	1934	ARX	Unknown	20506206 22196487 22787626	Orphanet	—
		CDKL5	Unknown	22196487 22787626	Orphanet	—
		GNAO1	Unknown	23993195	Orphanet	Rap1 signaling pathway Hormone signaling Circadian entrainment +21 more
		PNKP	Unknown	20118933	Orphanet	Base excision repair APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway
		SCN1B	Unknown	28218389	Orphanet	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
		SCN2A	Unknown	23550958 23935176	Orphanet	Taste transduction Phase 0 - rapid depolarisation
		SLC32A1	Unknown	36073542	Orphanet	Synaptic vesicle cycle Retrograde endocannabinoid signaling GABAergic synapse +4 more
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	C0393706	ABAT	Unknown	—	Disgenet	Alanine, aspartate and glutamate metabolism Valine, leucine and isoleucine degradation beta-Alanine metabolism +5 more
		ALG13	Unknown	—	Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
		ARX	Unknown	—	Disgenet	—
		CDKL5	Unknown	—	Disgenet	—
		CSTB	Unknown	—	Disgenet	Neutrophil degranulation
		CUX2	Unknown	—	Disgenet	—
		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	—
		GABRA1	Unknown	—	Disgenet	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +4 more
		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
		KCNQ3	Unknown	—	Disgenet	Cholinergic synapse Voltage gated Potassium channels
		NECAP1	Unknown	—	Disgenet	Golgi Associated Vesicle Biogenesis Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis
		PACS2	Unknown	—	Disgenet	—
		PLCB1	Unknown	—	Disgenet	Inositol phosphate metabolism Metabolic pathways Rap1 signaling pathway +67 more
		PNKP	Unknown	—	Disgenet	Base excision repair APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway
		RYR3	Unknown	—	Disgenet	Calcium signaling pathway Apelin signaling pathway Circadian entrainment +8 more
		SCN1B	Unknown	—	Disgenet	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
		SCN2A	Unknown	—	Disgenet	Taste transduction Phase 0 - rapid depolarisation
		SLC12A5	Unknown	—	Disgenet	GABAergic synapse Cation-coupled Chloride cotransporters
		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
		SYNJ1	Unknown	—	Disgenet	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +4 more
		SZT2	Unknown	—	Disgenet	Amino acids regulate mTORC1
		WWOX	Unknown	—	Disgenet	Nuclear signaling by ERBB4 Negative regulation of activity of TFAP2 (AP-2) family transcription factors Activation of the TFAP2 (AP-2) family of transcription factors
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	ALG13	Unknown	—	Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
		CFAP96	Unknown	—	Disgenet	—
		DEPDC5	Unknown	—	Disgenet	mTOR signaling pathway Amino acids regulate mTORC1
		GNAO1	Unknown	—	Disgenet	Rap1 signaling pathway Hormone signaling Circadian entrainment +21 more
		GRIA3	Unknown	—	Disgenet	cAMP signaling pathway Neuroactive ligand-receptor interaction Circadian entrainment +15 more
		KCNT1	Unknown	—	Disgenet	—
		RYR3	Unknown	—	Disgenet	Calcium signaling pathway Apelin signaling pathway Circadian entrainment +8 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
		ARX	Unknown	—	Disgenet	—
		CDKL5	Unknown	—	Disgenet	—
		CFAP96	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
		NAPB	Unknown	—	Disgenet	COPII-mediated vesicle transport COPI-mediated anterograde transport COPI-dependent Golgi-to-ER retrograde traffic +2 more
		PACS2	Unknown	—	Disgenet	—
		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
		TBC1D24	Unknown	—	Disgenet	TBC/RABGAPs
		WWOX	Unknown	—	Disgenet	Nuclear signaling by ERBB4 Negative regulation of activity of TFAP2 (AP-2) family transcription factors Activation of the TFAP2 (AP-2) family of transcription factors
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, 28	C4015519	WWOX	Unknown	—	Disgenet	Nuclear signaling by ERBB4 Negative regulation of activity of TFAP2 (AP-2) family transcription factors Activation of the TFAP2 (AP-2) family of transcription factors
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4	C2677326	CDKL5	Unknown	—	Disgenet	—
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47	C4310685	FGF12	Unknown	—	Disgenet	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	ABAT	Unknown	20052547 25738457 27376954 27596361 27903293 28411234 33768830 6148708	GWAS catalog	Alanine, aspartate and glutamate metabolism Valine, leucine and isoleucine degradation beta-Alanine metabolism +5 more
		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
		ARX	Unknown	18462864 19439424 23583054 25951140 29056246 29190809 29655203 29924869	ClinGen, Disgenet	—
		CDKL5	Unknown	22196487 22787626	GWAS catalog	—
		CSTB	Unknown	26843564 28378817	GWAS catalog	Neutrophil degranulation
		CUX2	Unknown	23020937 29630738 29795476 30842224 35571021 35846140	GWAS catalog	—
		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
		KCNQ3	Unknown	—	GenCC	Cholinergic synapse Voltage gated Potassium channels
		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	—
		PLCB1	Unknown	24684524 30554916 31054490 31883110 9305844	Orphanet	Inositol phosphate metabolism Metabolic pathways Rap1 signaling pathway +67 more
		PNKP	Unknown	20118933	GWAS catalog	Base excision repair APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway
		RYR3	Unknown	25262651	CTD	Calcium signaling pathway Apelin signaling pathway Circadian entrainment +8 more
		SLC12A5	Unknown	12000122 26333769 27436767 28477354 31618474 31780880	Disgenet	GABAergic synapse Cation-coupled Chloride cotransporters
		SNAP25	Unknown	12859899 17283335 25003006 25381298 2592413 29100083 33299146 9529252	CTD, ClinGen	Synaptic vesicle cycle Insulin secretion Serotonin Neurotransmitter Release Cycle +10 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
		WWOX	Unknown	24369382 24456803 25411445 30853297	GWAS catalog	Nuclear signaling by ERBB4 Negative regulation of activity of TFAP2 (AP-2) family transcription factors Activation of the TFAP2 (AP-2) family of transcription factors
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	442835 C5680057	CELF2	Unknown	33131106	Disgenet, Orphanet	—
		DEPDC5	Unknown	36067010	Orphanet	mTOR signaling pathway Amino acids regulate mTORC1
		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
		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	—
		SCN1B	Unknown	19710327 23148524 28218389 31465153 31709768 33901312	Disgenet	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
		SCN8A	Unknown	22365152 23708187	Disgenet, Orphanet	Phase 0 - rapid depolarisation
		SYNJ1	Unknown	27435091	Disgenet, Orphanet	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +4 more
		SZT2	Unknown	23932106	Disgenet, Orphanet	Amino acids regulate mTORC1
		WWOX	Unknown	—	Disgenet	Nuclear signaling by ERBB4 Negative regulation of activity of TFAP2 (AP-2) family transcription factors Activation of the TFAP2 (AP-2) family of transcription factors
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	MONDO:0018614	CELF2	Unknown	33131106	GWAS catalog	—
		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
		NECAP1	Unknown	24399846	CTD	Golgi Associated Vesicle Biogenesis Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis
		SYNJ1	Unknown	27435091	Disgenet	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +4 more
		SZT2	Unknown	23932106	GWAS catalog	Amino acids regulate mTORC1
		WWOX	Unknown	25411445	ClinVar	Nuclear signaling by ERBB4 Negative regulation of activity of TFAP2 (AP-2) family transcription factors Activation of the TFAP2 (AP-2) family of transcription factors

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Developmental and epileptic encephalopathy

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