Focal epilepsy resulting from a de novo SCN1A mutation

Neuropediatrics

Volumn 38, Issue 5, 2007, Pages 253-256

  Okumura, A ^a,b   Kurahashi, H ^c,d   Hirose, S ^c   Okawa, N ^b   Watanabe, K ^e  

^a JUNTENDO UNIVERSITY   (Japan)

^b Urayasu Ichikawa Municipal Hospitalm ^*  (Japan)

^c FUKUOKA UNIVERSITY   (Japan)

^d NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^e AICHI SHUKUTOKU UNIVERSITY   (Japan)

Author keywords

Focal epilepsy; Genotype phenotype correlation; SCN1A

Indexed keywords

VALPROIC ACID; VOLTAGE GATED SODIUM CHANNEL;

ARTICLE; CASE REPORT; CLONIC SEIZURE; CONSCIOUSNESS DISORDER; FEMALE; FEVER; FOCAL EPILEPSY; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; GRAND MAL SEIZURE; HUMAN; MISSENSE MUTATION; MYOCLONUS; PALLOR; PRESCHOOL CHILD; PRIORITY JOURNAL; SALIVATION; SCN1A GENE;

DEVELOPMENTAL DISABILITIES; EPILEPSIES, PARTIAL; EPILEPSY, GENERALIZED; EXANTHEMA SUBITUM; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PEDIGREE; SEIZURES, FEBRILE; SODIUM CHANNELS;

EID: 41549095874     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2008-1062703     Document Type: Article

References (12)

1. Ceulemans B, Claes LR, Lagae LG. Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy. Pediatr Neurol 2004; 30: 236-243
2. Claes L, Del-Favero J, Ceulemans B, Lagae L, Broeckhoven C Van, Jonghe P De. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet 2001; 68: 1327-1332
3. Escayg A, Heils A, MacDonald BT, Haug K, Sander T, Meisler MH. A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus-and prevalence of variants in patients with epilepsy. Am J Hum Genet 2001; 68: 866-873
4. Fujiwara T. Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies. Epilepsy Res 2006; 70S: S223-S230
5. + channel α1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB). Epilepsia 2004; 45: 140-148
6. Harkin LA, MacMahon JM, Iona X, Dibbens L, Pelekanos JT, Zuberi SM et al. The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain 2007; 130: 843-852
7. Kanai K, Hirose S, Oguni H, Fukuma G, Shirasaka Y, Miyajima T et al. Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity. Neurology 2004; 63: 329-334
8. Nabbout R, Gennaro E, Dalla Bernardina B, Dulac O, Madia F, Bertini E et al. Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. Neurology 2003; 60: 1961-1967
9. Ohmori I, Ouchida M, Ohtsuka Y, Oka E, Shimizu K. Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. Biochem Biophys Res Commun 2002; 295: 17-23
10. Ohmori I, Kahlig KM, Rhodes TH, Wang DW, George Jr AL. Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy. Epilepsia 2006; 47: 1636-1642
11. Sugawara T, Mazaki-Miyazaki E, Fukushima K, Shimomura J, Fujiwara T, Hamano S et al. Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. Neurology 2002; 58: 1122-1124
12. Wallace RH, Scheffer IE, Barnett S, Richards M, Dibbens L, Desai RR et al. Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. Am J Hum Genet 2001; 68: 859-865