Epilepsy: Genetics of early-onset epilepsy with encephalopathy

Nature Reviews Neurology

Volumn 8, Issue 3, 2012, Pages 129-130

  Nabbout, Rima ^a   Dulac, Olivier ^a  

^a UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BRAIN DISEASE; COPY NUMBER VARIATION; EPILEPSY; GENE MUTATION; GENE REARRANGEMENT; GENETIC ASSOCIATION; GENETIC SCREENING; HUMAN; INFANTILE SPASM; KCNQ2 GENE; MUTATIONAL ANALYSIS; MUTATOR GENE; ONSET AGE; PATIENT CARE; PRIORITY JOURNAL; SHORT SURVEY; STXBP1 GENE;

COGNITION DISORDERS; DNA COPY NUMBER VARIATIONS; EPILEPSY; EPILEPSY, BENIGN NEONATAL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KCNQ2 POTASSIUM CHANNEL; MALE; MUTATION; PHENOTYPE;

EID: 84858158216     PISSN: 17594758     EISSN: 17594766     Source Type: Journal    
DOI: 10.1038/nrneurol.2012.12     Document Type: Short Survey

References (10)

1. Mefford, H. C. et al. Rare copy number variants are an important cause of epileptic encephalopathies. Ann. Neurol. http://dx.doi.org/10.1002/ana.22645.
2. Weckhuysen, S. et al. KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy. Ann. Neurol. http://dx.doi.org/10.1002/ana. 22644.
3. Depienne, C. et al. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet. 5, e1000381 (2009).
4. Saitsu, H. et al. De novo mutations in the gene encoding STXBP1 (MUNC18-11) cause early infantile epileptic encephalopathy. Nat. Genet. 40, 782-788 (2008).
5. Milh, M. et al. Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations. Epilepsia 52, 1828-1834 (2011).
6. Milh, M. et al. Transient brain magnetic resonance imaging hyperintensity in basal ganglia and brain stem of epileptic infants treated with vigabatrin. J. Child Neurol. 24, 305-315 (2009).
7. Khazipov, R., Tyzio, R. & Ben-Ari, Y. Effects of oxytocin on GABA signalling in the foetal brain during delivery. Prog. Brain Res. 170, 243-257 (2008).
8. Marini, C., Mei, D., Helen Cross, J. & Guerrini, R. Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy. Epilepsia 47, 1737-1740 (2006).
9. Borgatti, R. et al. A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. Neurology 63, 57-65 (2004).
10. Scheffer, I. E. Does genotype determine phenotype? Sodium channel mutations in Dravet syndrome and GEFS+. Neurology 76, 588-589 (2011).