Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy
BPGM Ceulemans, LRF Claes, LG Lagae - Pediatric neurology, 2004 - Elsevier
Mutations in the α-subunit of the first neuronal sodium channel gene SCN1A have been
described in isolated patients with severe myoclonic epilepsy in infancy or Dravet syndrome
and in families with generalized epilepsy with febrile seizures plus. To find
phenotype/genotype correlations, we reviewed all published cases of mutations in SCN1A
in addition to four new patients reported here. A total of 60 mutations were observed.
Approximately 52%(31/60) are truncating mutations correlating with de novo cases of …
described in isolated patients with severe myoclonic epilepsy in infancy or Dravet syndrome
and in families with generalized epilepsy with febrile seizures plus. To find
phenotype/genotype correlations, we reviewed all published cases of mutations in SCN1A
in addition to four new patients reported here. A total of 60 mutations were observed.
Approximately 52%(31/60) are truncating mutations correlating with de novo cases of …