Seizure phenotypes of a family with missense mutations in SCN2A.
Pediatr Neurol
; 31(2): 150-2, 2004 Aug.
Article
in En
| MEDLINE
| ID: mdl-15301839
ABSTRACT
The seizure phenotypes of a Japanese family with missense mutations in SCN2A are described. The proband of the family had partial epilepsy after febrile seizures plus. He had three missense mutations of SCN2A (R19K, R188W, and R524Q). The R188W mutation was suggested by electrophysiologic studies to be the main disease mutation. However, it is suggested that the penetrance rate of this pedigree is extremely low, or that other genes may have modified the phenotype of the proband.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Seizures
/
Sodium Channels
/
Mutation, Missense
/
Nerve Tissue Proteins
Limits:
Child
/
Female
/
Humans
/
Male
Language:
En
Journal:
Pediatr Neurol
Journal subject:
NEUROLOGIA
/
PEDIATRIA
Year:
2004
Document type:
Article
Affiliation country:
Japan