The incidence of SCN1A-related Dravet syndrome in Denmark is 1:22,000: A population-based study from 2004 to 2009

Epilepsia

Volumn 56, Issue 4, 2015, Pages e36-e39

  Bayat, Allan ^a   Hjalgrim, Helle ^b,c   Møller, Rikke S ^b,c  

^a Mental Health Services CPH   (Denmark)

^b DANISH EPILEPSY CENTRE   (Denmark)

^c UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

Author keywords

Dravet syndrome; Epileptic encephalopathy; SCN1A mutation; Severe myoclonic epilepsy in infancy

Indexed keywords

ARTICLE; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; DENMARK; DISEASE SEVERITY; FEMALE; FRAMESHIFT MUTATION; GENE; HUMAN; INCIDENCE; INDEL MUTATION; MALE; MISSENSE MUTATION; NEXT GENERATION SEQUENCING; NONSENSE MUTATION; POPULATION RESEARCH; PRIORITY JOURNAL; SCN1A GENE; SEVERE MYOCLONIC EPILEPSY IN INFANCY; EPILEPSIES, MYOCLONIC; GENETICS; HEALTH SURVEY; MUTATION; PRESCHOOL CHILD; PROCEDURES; RETROSPECTIVE STUDY;

SCN1A PROTEIN, HUMAN; SODIUM CHANNEL NAV1.1;

CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DENMARK; EPILEPSIES, MYOCLONIC; FEMALE; HUMANS; INCIDENCE; MALE; MUTATION; NAV1.1 VOLTAGE-GATED SODIUM CHANNEL; POPULATION SURVEILLANCE; RETROSPECTIVE STUDIES;

EID: 84927517194     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.12927     Document Type: Article

References (14)

1. Dravet C,. Les epilepsies graves de l'enfant. Vie Med 1978; 8: 543-548.
2. Brunklaus A, Ellis R, Reavey E, et al. Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. Brain 2012; 135: 2329-2336.
3. Fukuma G, Oguni H, Shirasaka Y, et al. Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB). Epilepsia 2004; 45: 140-148.
4. 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.
5. 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: e1000381v.
6. Harkin LA, Bowser DN, Dibbens LM, et al. Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. Am J Hum Genet 2002; 70: 530-536.
7. Patino GA, Claes LR, Lopez-Santiago LF, et al. A functional null mutation of SCN1B in a patient with Dravet syndrome. J Neurosci 2009; 29: 10764-10778.
8. Suls A, Jaehn JA, Kecskés A, et al. De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. Am J Hum Genet 2013; 93: 967-975.
9. Carvill GL, Weckhuysen S, McMahon JM, et al. GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. Neurology 82: 1245-1253.
10. Lemke JR, Riesch E, Scheurenbrand T, et al. Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia 2012; 53: 1387-1398.
11. Renier WO, Renkawek K,. Clinical and neuropathologic findings in a case of severe myoclonic epilepsy of infancy. Epilepsia 1990; 31: 287-291.
12. Siegler Z, Barsi P, Neuwirth M, et al. Hippocampal sclerosis in severe myoclonic epilepsy in infancy: a retrospective MRI study. Epilepsia 2005; 46: 704-708.
13. Striano P, Mancardi MM, Biancheri R, et al. Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations. Epilepsia 2007; 48: 1092-1096.
14. Barba C, Parrini E, Coras R, et al. Co-occurring malformations of cortical development and SCN1A gene mutations. Epilepsia 2014; 5: 1-11.