Four novel SCN1A mutations in turkish patients with severe myoclonic epilepsy of infancy (SMEI)

Journal of Child Neurology

Volumn 25, Issue 10, 2010, Pages 1265-1268

  Arlier, Zulfikar ^a   Bayri, Yasar ^a   Kolb, Luis E ^a   Erturk, Ozdem ^b   Ozturk, Ali K ^a   Bayrakli, Fatih ^a   Bilguvar, Kaya ^a   Moliterno, Jennifer A ^a   Dervent, Aysin ^b   Demirbilek, Veysi ^b   Yalcinkaya, Cengiz ^b   Korkmaz, Baris ^b   Tuysuz, Beyhan ^b   Gunel, Murat ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b ISTANBUL UNIVERSITY   (Turkey)

Author keywords

Dravet syndrome; mutation; SCN1A; severe myoclonic epilepsy of infancy

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR GAMMA2; MESSENGER RNA; SODIUM CHANNEL NAV1.1;

ARTICLE; CLINICAL ARTICLE; DRAVET SYNDROME; EXON; FRAMESHIFT MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; INFANT; MISSENSE MUTATION; MUTATIONAL ANALYSIS; MYOCLONUS EPILEPSY; NONSENSE MUTATION; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL;

COHORT STUDIES; EPILEPSIES, MYOCLONIC; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; INFANT, NEWBORN; MUTATION; NERVE TISSUE PROTEINS; SODIUM CHANNELS;

EID: 77958006306     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073809357241     Document Type: Article

References (25)

1. Dravet C. Les épilepsies graves de l'enfant. Vie Médicale. 1978: 1.
2. Dravet C. Severe myoclonic epilepsy in infants and its related syndromes. Epilepsia. 2000; 41: 7.
3. Dravet C., Bureau M., Oguni H., Fukuyama Y., Cokar O. Severe myoclonic epilepsy in infancy: Dravet syndrome. Adv Neurol. 2005; 95: 71-102.
4. Wolff M., Casse-Perrot C., Dravet C. Severe myoclonic epilepsy of infants (Dravet syndrome): natural history and neuropsychological findings. Epilepsia. 2006; 47: 45-48.
5. Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. Epilepsia. 1989; 30: 389-399.
6. 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.
7. Harkin LA, McMahon JM, Iona X., et al. The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain. 2007; 130: 843-852.
8. Marini C., Mei D., Temudo T., et al. Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. Epilepsia. 2007; 48: 1678-1685.
9. Mulley JC, Scheffer IE, Petrou S., Dibbens LM, Berkovic SF, Harkin LA SCN1A mutations and epilepsy. Hum Mutat. 2005; 25: 535-542.
10. Madia F., Striano P., Gennaro E., et al. Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. Neurology. 2006; 67: 1230-1235.
11. Mulley JC, Nelson P., Guerrero S., et al. A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A. Neurology. 2006; 67: 1094-1095.
12. Suls A., Claeys KG, Goossens D., et al. Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients. Hum Mutat. 2006; 27: 914-920.
13. Wang JW, Kurahashi H., Ishii A., et al. Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy. Epilepsia. 2008; 49: 1528-1534.
14. Claes L., Ceulemans B., Audenaert D., et al. De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. Hum Mutat. 2003; 21: 615-621.
15. Depienne C., Trouillard O., Saint-Martin C., et al. Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. J Med Genet. 2009; 46: 183-191.
16. Baulac S., Huberfeld G., Gourfinkel-An I., et al. First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. Nat Genet. 2001; 28: 46-48.
17. Wallace R. Mutations in GABA-receptor genes cause human epilepsy. Lancet Neurol. 2002; 1: 212.
18. Depienne C., Bouteiller D., Keren B., et al. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet. 2009; 5: e1000381.
19. Dibbens LM, Tarpey PS, Hynes K., et al. X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet. 2008; 40: 776-781.
20. Escayg A., MacDonald BT, Meisler MH, et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet. 2000; 24: 343-345.
21. Lossin C. A catalog of SCN1A variants. Brain Dev. 2009; 31: 114-130.
22. Mantegazza M., Gambardella A., Rusconi R., et al. Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures. Proc Natl Acad Sci U S A. 2005; 102: 18177-18182.
23. Spampanato J., Escayg A., Meisler MH, Goldin AL Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels. Neuroscience. 2003; 116: 37-48.
24. Ceulemans BP, 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.
25. Kanai K., Hirose S., Oguni H., et al. Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity. Neurology. 2004; 63: 329-334.