Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy

Epilepsy Research

Volumn 102, Issue 3, 2012, Pages 195-200

  Wang, Ji Wen ^a,b   Shi, Xiu Yu ^a,c   Kurahashi, Hirokazu ^a,d   Hwang, Su Kyeong ^a   Ishii, Atsushi ^a   Higurashi, Norimichi ^a,f   Kaneko, Sunao ^e   Hirose, Shinichi ^a  

^a FUKUOKA UNIVERSITY   (Japan)

^b SHANDONG UNIVERSITY   (China)

^c CHINESE PLA GENERAL HOSPITAL   (China)

^d Central Hospital of Aichi Welfare Center for Persons with Developmental Disabilities   (Japan)

^e JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f HIROSAKI UNIVERSITY   (Japan)

Author keywords

Channelopathy; Dravet syndrome; Genetic tests; Molecular diagnosis; Oversight

Indexed keywords

SODIUM CHANNEL NAV1.1; SODIUM CHANNEL NAV1.2;

ALPHA1 SUBUNIT OF NEURONAL SODIUM CHANNEL GENE; ARTICLE; BENIGN CHILDHOOD EPILEPSY; CHILD; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; DISEASE DURATION; EARLY DIAGNOSIS; FRAMESHIFT MUTATION; GENE DELETION; GENE FREQUENCY; GENE IDENTIFICATION; GENETIC ASSOCIATION; HUMAN; INTRACTABLE EPILEPSY; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOLECULAR PATHOLOGY; MUTATOR GENE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POINT MUTATION; PREVALENCE; PRIORITY JOURNAL; RNA SEQUENCE; SCN1B GENE; SCN2A GENE; SCN2B GENE; SEVERE MYOCLONIC EPILEPSY IN INFANCY;

CHILD; EPILEPSIES, MYOCLONIC; EPILEPSY; FEMALE; GENETIC TESTING; HUMANS; MALE; NAV1.1 VOLTAGE-GATED SODIUM CHANNEL; NAV1.2 VOLTAGE-GATED SODIUM CHANNEL; POINT MUTATION; STATISTICS, NONPARAMETRIC;

EID: 84870295403     PISSN: 09201211     EISSN: 18726844     Source Type: Journal    
DOI: 10.1016/j.eplepsyres.2012.06.006     Document Type: Article

References (25)

1. Claes L., Ceulemans B., Audenaert D., Smets K., Lofgren A., Del-Favero J., Ala-Mello S., Basel-Vanagaite L., Plecko B., Raskin S., Thiry P., Wolf N.I., Van Broeckhoven C., De Jonghe P. De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. Hum. Mutat. 2003, 21:615-621.
2. Claes L., Del-Favero J., Ceulemans B., Lagae L., Van Broeckhoven C., De Jonghe P. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am. J. Hum. Genet. 2001, 68:1327-1332.
3. Dravet C., Bureau M., Guerrini R., Giraud N., Roger J. Severe myoclonic epilepsy in infants. Epileptic Syndromes in Infancy, Childhood and Adolescence 1992, 75-88. John Libbey, London. J. Roger, C. Dravet, M. Bureau, F.E. Dreifuss, A. Perret, P. Wolf (Eds.).
4. Engel J. A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology. Epilepsia 2001, 42:796-803.
5. Fujiwara T. Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies. Epilepsy Res. 2006, 70(Suppl 1):S223-S230.
6. Fujiwara T., Sugawara T., Mazaki-Miyazaki E., Takahashi Y., Fukushima K., Watanabe M., Hara K., Morikawa T., Yagi K., Yamakawa K., Inoue Y. Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood. Epilepsies with frequent generalized tonic-clonic seizures. Brain 2003, 126:531-546.
7. + channel α1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB). Epilepsia 2004, 45:140-148.
8. Gennaro E., Santorelli F.M., Bertini E., Buti D., Gaggero R., Gobbi G., Lini M., Granata T., Freri E., Parmeggiani A., Striano P., Veggiotti P., Cardinali S., Bricarelli F.D., Minetti C., Zara F. Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. Biochem. Biophys. Res. Commun. 2006, 341:489-493.
9. Harkin L.A., McMahon J.M., Iona X., Dibbens L., Pelekanos J.T., Zuberi S.M., Sadleir L.G., Andermann E., Gill D., Farrell K., Connolly M., Stanley T., Harbord M., Andermann F., Wang J., Batish S.D., Jones J.G., Seltzer W.K., Gardner A., Sutherland G., Berkovic S.F., Mulley J.C., Scheffer I.E. The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain 2007, 130:843-852.
10. Ito M., Shirasaka Y., Hirose S., Sugawara T., Yamakawa K. Seizure phenotypes of a family with missense mutations in SCN2A. Pediatr Neurol 2004, 31:150-152.
11. Lossin C. A catalog of SCN1A variants. Brain Dev 2009, 31:114-130.
12. Madia F., Striano P., Gennaro E., Malacarne M., Paravidino R., Biancheri R., Budetta M., Cilio M.R., Gaggero R., Pierluigi M., Minetti C., Zara F. Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. Neurology 2006, 67:1230-1235.
13. Marini C., Scheffer I.E., Nabbout R., Mei D., Cox K., Dibbens L.M., McMahon J.M., Iona X., Carpintero R.S., Elia M., Cilio M.R., Specchio N., Giordano L., Striano P., Gennaro E., Cross J.H., Kivity S., Neufeld M.Y., Afawi Z., Andermann E., Keene D., Dulac O., Zara F., Berkovic S.F., Guerrini R., Mulley J.C. SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. Epilepsia 2009, 50:1670-1678.
14. Millichap J.J., Koh S., Laux L.C., Nordli D.R. Child Neurology: Dravet syndrome: when to suspect the diagnosis. Neurology 2009, 73:e59-e62.
15. Mullen S.A., Scheffer I.E. Translational research in epilepsy genetics: sodium channels in man to interneuronopathy in mouse. Arch Neurol 2009, 66:21-26.
16. Mulley J.C., Nelson P., Guerrero S., Dibbens L., Iona X., McMahon J.M., Harkin L., Schouten J., Yu S., Berkovic S.F., Scheffer I.E. A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A. Neurology 2006, 67:1094-1095.
17. Mulley J.C., Scheffer I.E., Petrou S., Dibbens L.M., Berkovic S.F., Harkin L.A. SCN1A mutations and epilepsy. Hum Mutat 2005, 25:535-542.
18. Nabbout R., Gennaro E., Dalla Bernardina B., Dulac O., Madia F., Bertini E., Capovilla G., Chiron C., Cristofori G., Elia M., Fontana E., Gaggero R., Granata T., Guerrini R., Loi M., La Selva L., Lispi M.L., Matricardi A., Romeo A., Tzolas V., Valseriati D., Veggiotti P., Vigevano F., Vallee L., Dagna Bricarelli F., Bianchi A., Zara F. Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. Neurology 2003, 60:1961-1967.
19. II gene SCN2A in intractable epilepsies. Neurology 2009, 73:1046-1053.
20. Ottman R., Hirose S., Jain S., Lerche H., Lopes-Cendes I., Noebels J.L., Serratosa J., Zara F., Scheffer I.E. Genetic testing in the epilepsies-report of the ILAE Genetics Commission. Epilepsia 2010, 51:655-670.
21. Patino G.A., Claes L.R., Lopez-Santiago L.F., Slat E.A., Dondeti R.S., Chen C., O'Malley H.A., Gray C.B., Miyazaki H., Nukina N., Oyama F., De Jonghe P., Isom L.L. A functional null mutation of SCN1B in a patient with Dravet syndrome. J. Neurosci. 2009, 29:10764-10778.
22. Shi X., Yasumoto S., Nakagawa E., Fukasawa T., Uchiya S., Hirose S. Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome. Brain Dev. 2009, 31:758-762.
23. Suls A., Claeys K.G., Goossens D., Harding B., Van Luijk R., Scheers S., Deprez L., Audenaert D., Van Dyck T., Beeckmans S., Smouts I., Ceulemans B., Lagae L., Buyse G., Barisic N., Misson J.P., Wauters J., Del-Favero J., De Jonghe P., Claes L.R. Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients. Hum. Mutat. 2006, 27:914-920.
24. Wallace R.H., Hodgson B.L., Grinton B.E., Gardiner R.M., Robinson R., Rodriguez-Casero V., Sadleir L., Morgan J., Harkin L.A., Dibbens L.M., Yamamoto T., Andermann E., Mulley J.C., Berkovic S.F., Scheffer I.E. Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. Neurology 2003, 61:765-769.
25. Wang J.W., Kurahashi H., Ishii A., Kojima T., Ohfu M., Inoue T., Ogawa A., Yasumoto S., Oguni H., Kure S., Fujii T., Ito M., Okuno T., Shirasaka Y., Natsume J., Hasegawa A., Konagaya A., Kaneko S., Hirose S. Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy. Epilepsia 2008, 49:1528-1534.