Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome)

Brain and Development

Volumn 23, Issue 7, 2001, Pages 732-735

  Scheffer, Ingrid E ^a,b,f   Wallace, Robyn ^c,d   Mulley, John C ^c,e   Berkovic, Samuel F ^a  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b MONASH MEDICAL CENTRE   (Australia)

^c WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^d UNIVERSITY OF ADELAIDE   (Australia)

^e UNIVERSITY OF ADELAIDE   (Australia)

^f AUSTIN HEALTH   (Australia)

Author keywords

Dravet syndrome; Generalized epilepsy with febrile seizure plus; Genetics; Myoclonic astatic epilepsy; Severe myoclonic epilepsy in infancy; Sodium channel gene mutation

Indexed keywords

4 AMINOBUTYRIC ACID RECEPTOR; SODIUM CHANNEL;

BRAIN DISEASE; CONFERENCE PAPER; DRAVET SYNDROME; FAMILY STUDY; FEBRILE CONVULSION; GENE MUTATION; GENERALIZED EPILEPSY; HUMAN; INFANT; MOLECULAR GENETICS; MYOCLONUS EPILEPSY; PHENOTYPE; SEIZURE;

EPILEPSIES, MYOCLONIC; EPILEPSY, GENERALIZED; HUMANS; INFANT; MUTATION; SODIUM CHANNELS;

EID: 0034783413     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(01)00272-8     Document Type: Conference Paper

References (31)

1. Proposal for revised classification of epilepsies and epileptic syndromes
2. Centrencephalic myoclonic-astatic petit mal
3. Myoclonic astatic epilepsy of early childhood
4. Les epilepsies graves de l'enfant
5. Severe myoclonic epilepsy in infants
6. Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes
7. A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33
8. +) on chromosome 2q24-q33
9. First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene
10. +): evidence for clinical and genetic heterogeneity in a large family
11. +): a common, childhood onset, genetic epilepsy syndrome
12. Temporal lobe epilepsy and febrile seizures associated with a sodium channel β1 subunit (SCN1B) mutation
13. Epidemiology of febrile and afebrile convulsions in children in Japan
14. +-channel β1 subunit gene SCN1B
15. Myoclonic epilepsies in childhood
16. Clinical and electroencephalographic study of severe myoclonic epilepsy in infancy (Dravet)
17. Severe myoclonic epilepsy of infancy
18. A clinical and EEG study of predominantly unilateral seizures in children - comparison with severe myoclonic epilepsy in infancy
19. Clinicoelectrographic concordance between monozygotic twins with severe myoclonic epilepsy in infancy
20. Monozygotic twins with severe myoclonic epilepsy in infancy
21. +?
22. Genetic predisposition to severe myoclonic epilepsy in infancy
23. Generalized epilepsy with febrile seizures plus and severe myoclonic epilepsy in infancy: a case report of two Italian families
24. A new locus for generalised epilepsy with febrile seizures plus maps to chromosome 2
25. +2
26. Neuronal sodium channel α1 subunit (SCN1A) mutations in generalised epilepsy with febrile seizures plus
27. A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus-and prevalence of variants in patients with epilepsy
28. Mutant GABA(A) receptor γ2-subunit in childhood absence epilepsy and febrile seizures
29. + channel alphaII subunit gene Na(v)12 in a patient with febrile and afebrile seizures causes channel dysfunction
30. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy