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Benign familial epilepsy of childhood with rolandic spikes
2 OMIM references -
2 associated genes
11 connected diseases
No signs/symptoms info
Disease Type of connection
Rolandic epilepsy - speech dyspraxia
Bilateral perisylvian polymicrogyria
Early-onset epileptic encephalopathy and intellectual deficit due to GRIN2A mutation
Epileptic encephalopathy with continuous spike-and-wave during sleep
Landau-Kleffner syndrome
X-linked non-syndromic intellectual deficit
Autosomal dominant nonsyndromic intellectual deficit
Severe intellectual deficit and progressive spastic paraplegia
Autosomal dominant macrothrombocytopenia
X-linked intellectual deficit, Najm type
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Synonym(s):
- Autosomal dominant BECRS
- Centrotemporal epilepsy
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
GRIN2A Q12879138253
SRPX2 O60687300642
No signs/symptoms info available.