Clinical spectrum of SCN2A mutations.
Mutations in SCN2A, the gene encoding α2 subunit of the neuronal sodium channel, are associated with a variety of epilepsies: benign familial neonatal-infantile seizures (BFNIS); genetic epilepsy with febrile seizures plus (GEFS+); Dravet syndrome (DS); and some intractable childhood epilepsies. More than 10 new mutations have been identified in BFNIS, all of them are missense. To date, only one nonsense mutation has been found in a patient with intractable childhood epilepsy and severe mental decline. Recently, microduplication of chromosome 2q24.3 (containing eight genes including SCN2A, SCN3A, and the 3' end of SCN1A) was reported in a family with dominantly inherited neonatal seizures and intellectual disability. Functional studies of SCN2A mutations show that they can cause divergent biophysical defects in Na(V)1.2 and impair cell surface expressions. There is no consistent relationship between genotype and phenotype.
Department of Pediatrics, School of Medicine, Fukuoka University, Nanakuma, Fukuoka, Japan.
Xiuyu
X
Shi
Sawa
S
Yasumoto
Hirokazu
H
Kurahashi
Eiji
E
Nakagawa
Tatsuya
T
Fukasawa
Satoshi
S
Uchiya
Shinichi
S
Hirose
D000818:Animals; D018389:Codon, Nonsense / Q000235:genetics*; D020936:Epilepsy, Benign Neonatal / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics*; D062551:NAV1.2 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D003294:Seizures, Febrile / Q000235:genetics; D015222:Sodium Channels / Q000235:genetics*
D018389:Codon, Nonsense; D062551:NAV1.2 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568251:SCN2A protein, human; D015222:Sodium Channels