| EPILEPSY, PYRIDOXINE-DEPENDENT |
C1849508 |
ALDH7A1
|
Causal
Pathogenic evidence from ClinVar
|
16491085, 17068770, 17721876, 18717709, 19128417, 20370816, 20554659, 20814824, 22371912, 22529283, 22784480, 23022070, 23054014, 23350806, 23430810, 24122892, 26101365, 26224730, 26232297, 27438048, 27604308, 28087462, 29053735, 29061647 |
ClinVar |
|
PLPBP
|
Causal
Pathogenic evidence from ClinVar
|
27912044 |
ClinVar |
| Epilepsy |
C0014544 |
ATP1A2
|
Causal
Pathogenic evidence from ClinVar
|
30690204 |
ClinVar |
|
CACNB4
|
Causal
Pathogenic evidence from ClinVar
|
9039265, 9442082, 10762541, 18755274, 24875574, 27959697 |
ClinVar |
|
GABRB3
|
Causal
Pathogenic evidence from ClinVar
|
15878204, 29942082 |
ClinVar |
|
PCDH19
|
Causal
Pathogenic evidence from ClinVar
|
18469813, 19214208, 21480887 |
ClinVar |
|
PIGQ
|
Causal
Pathogenic evidence from ClinVar
|
31148362 |
ClinVar |
|
SCN1A
|
Causal
Pathogenic evidence from ClinVar
|
15805193, 19694741, 23708187, 25087078, 29942082, 30531953 |
ClinVar |
|
SCN2A
|
Causal
Pathogenic evidence from ClinVar
|
16464983, 20956790, 23708187, 29942082 |
ClinVar |
| Epilepsy, Akinetic |
C0347869 |
CACNB4
|
Causal
Pathogenic evidence from ClinVar
|
10762541 |
ClinVar |
|
SCN1A
|
Causal
Pathogenic evidence from ClinVar
|
21480876 |
ClinVar |
| Epilepsy, Atonic |
C0086236 |
CACNB4
|
Causal
Pathogenic evidence from ClinVar
|
10762541 |
ClinVar |
|
SCN1A
|
Causal
Pathogenic evidence from ClinVar
|
21480876 |
ClinVar |
| Epilepsy, Generalized |
C0014548 |
CACNB4
|
Causal
Pathogenic evidence from ClinVar
|
10762541 |
ClinVar |
|
SCN1A
|
Causal
Pathogenic evidence from ClinVar
|
21480876, 30531953 |
ClinVar |
| Epilepsy, Tonic |
C0086241 |
CACNB4
|
Causal
Pathogenic evidence from ClinVar
|
10762541 |
ClinVar |
|
SCN1A
|
Causal
Pathogenic evidence from ClinVar
|
21480876 |
ClinVar |
| Idiopathic generalized epilepsy |
C0270850 |
CACNB4
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SCN1A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Impulsive Petit Mal Epilepsy |
C4553298 |
CACNB4
|
Causal
Pathogenic evidence from ClinVar
|
10762541 |
ClinVar |
| Symptomatic Generalized Epilepsy |
C0270854 |
CACNB4
|
Causal
Pathogenic evidence from ClinVar
|
10762541 |
ClinVar |
|
SCN1A
|
Causal
Pathogenic evidence from ClinVar
|
21480876 |
ClinVar |
| EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 |
C4551983 |
DEPDC5
|
Causal
Pathogenic evidence from ClinVar
|
10577924, 23542697, 23542701, 24283814, 24585383, 24591017, 24814846, 25366275, 25599672, 25623524, 26000329, 26216793, 26505888, 26704558, 27066544, 27066554, 27066565, 27159400, 27173016 |
ClinVar |
| Epilepsy, Partial, with Variable Foci |
C1858477 |
DEPDC5
|
Causal
Pathogenic evidence from ClinVar
|
23542697, 23542701, 24283814, 24585383, 24814846, 26000329, 26505888, 26704558, 27066554, 28102150, 28199897, 29481864, 29708509, 29761115, 29861134, 29950950 |
ClinVar |
|
NPRL2
|
Causal
Pathogenic evidence from ClinVar
|
26505888, 27173016 |
ClinVar |
|
NPRL3
|
Causal
Pathogenic evidence from ClinVar
|
26505888, 27173016 |
ClinVar |
| Epilepsy, Rolandic |
C0376532 |
DEPDC5
|
Causal
Pathogenic evidence from ClinVar
|
29358611 |
ClinVar |
|
PCDH19
|
Causal
Pathogenic evidence from ClinVar
|
29358611 |
ClinVar |
|
SCN1A
|
Causal
Pathogenic evidence from ClinVar
|
29358611 |
ClinVar |
| Familial focal epilepsy with variable foci |
98820 |
DEPDC5
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NPRL2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NPRL3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Awakening Epilepsy |
C0751111 |
GABRB3
|
Causal
Pathogenic evidence from ClinVar
|
15878204, 29942082 |
ClinVar |
|
PCDH19
|
Causal
Pathogenic evidence from ClinVar
|
18469813 |
ClinVar |
|
SCN1A
|
Causal
Pathogenic evidence from ClinVar
|
15805193, 19694741, 23708187, 29942082 |
ClinVar |
|
SCN2A
|
Causal
Pathogenic evidence from ClinVar
|
16464983, 23708187, 29942082 |
ClinVar |
| Epilepsy, Absence, Atypical |
C0751124 |
GABRB3
|
Causal
Pathogenic evidence from ClinVar
|
18514161 |
ClinVar |
| EPILEPSY, CHILDHOOD ABSENCE, 1 |
C1838604 |
GABRB3
|
Causal
Pathogenic evidence from ClinVar
|
18514161, 28053010, 28544625 |
ClinVar |
| Epilepsy, Cryptogenic |
C0086237 |
GABRB3
|
Causal
Pathogenic evidence from ClinVar
|
15878204, 29942082 |
ClinVar |
|
PCDH19
|
Causal
Pathogenic evidence from ClinVar
|
18469813 |
ClinVar |
|
SCN1A
|
Causal
Pathogenic evidence from ClinVar
|
15805193, 19694741, 23708187, 29942082 |
ClinVar |
| Epilepsy, Minor |
C4552765 |
GABRB3
|
Causal
Pathogenic evidence from ClinVar
|
18514161 |
ClinVar |
| Epilepsy, Familial Temporal Lobe 1 |
C4551957 |
LGI1
|
Causal
Pathogenic evidence from ClinVar
|
11810107, 11978770, 12205652, 12601709, 12771268, 14510822, 15079010, 15079011, 15349881, 15857855, 17067999, 17296837, 17562837, 18625862, 18711109, 19552651, 22496201, 24206907, 26773249 |
ClinVar |
| EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2 |
C4310709 |
NPR2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NPRL2
|
Causal
Pathogenic evidence from ClinVar
|
26505888, 27173016, 30093711 |
ClinVar |
| EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3 |
C4310708 |
NPRL3
|
Causal
Pathogenic evidence from ClinVar
|
26285051, 26505888, 27173016 |
ClinVar |
| EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT |
C4310632 |
PLPBP
|
Causal
Pathogenic evidence from ClinVar
|
27912044 |
ClinVar |
| Epilepsies, Partial |
C0014547 |
SCN1A
|
Causal
Pathogenic evidence from ClinVar
|
25087078, 30531953 |
ClinVar |
|
SCN2A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Benign familial infantile epilepsy |
306 |
SCN2A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
