Electroclinical features of epileptic encephalopathy caused by SCN8A mutation

Pediatrics International

Volumn 57, Issue 4, 2015, Pages 758-762

  Takahashi, Satoru ^a   Yamamoto, Shiho ^a   Okayama, Akie ^a   Araki, Akiko ^a   Saitsu, Hirotomo ^b   Matsumoto, Naomichi ^b   Azuma, Hiroshi ^a  

^a ASAHIKAWA MEDICAL COLLEGE   (Japan)

^b YOKOHAMA CITY UNIVERSITY   (Japan)

Author keywords

encephalopathy; epilepsy; mutation; SCN8A; sodium channel

Indexed keywords

ARGININE; CARBAMAZEPINE; CYTOSINE; ETIRACETAM; LAMOTRIGINE; PHENOBARBITAL; PHENYTOIN; SODIUM CHANNEL NAV1.6; THYMINE; TRYPTOPHAN; VALPROIC ACID; ZONISAMIDE; ANTICONVULSIVE AGENT;

AGING; ARTICLE; BRAIN ATROPHY; BRAIN DISEASE; CASE REPORT; CHILD; CLINICAL FEATURE; DISEASE ACTIVITY; DISEASE EXACERBATION; DRUG MEGADOSE; ELECTROENCEPHALOGRAPHY; EPILEPSY; EPILEPTIC ENCEPHALOPATHY; EPILEPTIC STATE; FEMALE; FOCAL MOTOR SEIZURE; HUMAN; HUMAN CELL; MISSENSE MUTATION; MUSCLE HYPOTONIA; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; PSYCHOMOTOR DISORDER; RECURRENT DISEASE; SCN8A GENE; SEIZURE; TONIC CLONIC SEIZURE; TONIC SEIZURE; GENETICS; INFANT; MUTATION; NEWBORN;

ANTICONVULSANTS; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MUTATION; NAV1.6 VOLTAGE-GATED SODIUM CHANNEL;

EID: 84940606174     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/ped.12622     Document Type: Article

References (12)

1. Carvill GL, Heavin SB, Yendle SC, et-al. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat. Genet. 2013; 45: 825-830.
2. Ohba C, Kato M, Takahashi S, et-al. Early onset epileptic encephalopathy caused by de novo SCN8A mutations. Epilepsia 2014; 55: 994-1000.
3. Veeramah KR, O'Brien JE, Meisler MH, et-al. De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. Am. J. Hum. Genet. 2012; 90: 502-510.
4. O'Brien JE, Meisler MH,. Sodium channel SCN8A (Nav1.6): Properties and de novo mutations in epileptic encephalopathy and intellectual disability. Front. Genet. 2013; 4: 213.
5. Vaher U, Nõukas M, Nikopensius T, et-al. De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders. J. Child Neurol. 2014; 29: NP202-206.
6. Estacion M, O'Brien JE, Conravey A, et-al. A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy. Neurobiol. Dis. 2014; 69C: 117-123.
7. Saitsu H, Nishimura T, Muramatsu K, et-al. De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nat. Genet. 2013; 45: 445-449.
8. Ishii A, Shioda M, Okumura A, et-al. A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. Gene 2013; 531: 467-471.
9. Wang C, Chung BC, Yan H, Lee SY, Pitt GS,. Crystal structure of the ternary complex of a NaV C-terminal domain, a fibroblast growth factor homologous factor, and calmodulin. Structure 2012; 20: 1167-1176.
10. Martin MS, Tang B, Papale LA, Yu FH, Catterall WA, Escayg A,. The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy. Hum. Mol. Genet. 2007; 16: 2892-2899.
11. Liao Y, Deprez L, Maljevic S, et-al. Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy. Brain 2010; 133 (Pt 5): 1403-1414.
12. Blumenfeld H, Lampert A, Klein JP, et-al. Role of hippocampal sodium channel Nav1.6 in kindling epileptogenesis. Epilepsia 2009; 50: 44-55.