×
Entrez Id:
8929
Gene Symbol:
PHOX2B
PHOX2B
0.010
GeneticVariation
disease
BEFREE
Sequencing of 68 cases of SUDEP identified a 15-nucleotide deletion in the PHOX2B polyalanine repeat region in one case, a 16-year-old adolescent with focal dyscognitive seizures from age 5 years.
25085640
2014
×
Entrez Id:
2782
Gene Symbol:
GNB1
GNB1
0.100
CausalMutation
disease
CLINVAR
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
27108799
2016
×
Entrez Id:
7957
Gene Symbol:
EPM2A
EPM2A
0.100
Biomarker
disease
HPO
×
Entrez Id:
112755
Gene Symbol:
STX1B
STX1B
0.100
Biomarker
disease
HPO
×
Entrez Id:
10588
Gene Symbol:
MTHFS
MTHFS
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
2055
Gene Symbol:
CLN8
CLN8
0.100
Biomarker
disease
HPO
×
Entrez Id:
64780
Gene Symbol:
MICAL1
MICAL1
0.100
Biomarker
disease
HPO
×
Entrez Id:
6324
Gene Symbol:
SCN1B
SCN1B
0.100
Biomarker
disease
HPO
×
Entrez Id:
9419
Gene Symbol:
CRIPT
CRIPT
0.100
Biomarker
disease
HPO
×
Entrez Id:
378884
Gene Symbol:
NHLRC1
NHLRC1
0.100
Biomarker
disease
HPO
×
Entrez Id:
2566
Gene Symbol:
GABRG2
GABRG2
0.100
Biomarker
disease
HPO
×
Entrez Id:
1183
Gene Symbol:
CLCN4
CLCN4
0.100
Biomarker
disease
HPO
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
81603
Gene Symbol:
TRIM8
TRIM8
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
23126
Gene Symbol:
POGZ
POGZ
0.100
Biomarker
disease
HPO
×
Entrez Id:
7874
Gene Symbol:
USP7
USP7
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
9211
Gene Symbol:
LGI1
LGI1
0.100
Biomarker
disease
HPO
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
0.100
Biomarker
disease
HPO
×
Entrez Id:
23229
Gene Symbol:
ARHGEF9
ARHGEF9
0.100
Biomarker
disease
HPO
×
Entrez Id:
2554
Gene Symbol:
GABRA1
GABRA1
0.100
Biomarker
disease
HPO
ST20-MTHFS
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
7248
Gene Symbol:
TSC1
TSC1
0.100
Biomarker
disease
HPO
×
Entrez Id:
2782
Gene Symbol:
GNB1
GNB1
0.100
Biomarker
disease
HPO
×
Entrez Id:
6335
Gene Symbol:
SCN9A
SCN9A
0.100
Biomarker
disease
HPO
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.100
Biomarker
disease
HPO