Genetics of the epilepsies: Genetic twists in the channels and other tales
Author:
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1528-1167.2009.02440.x/fullpdf
Reference31 articles.
1. First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene;Baulac;Nat Genet,2001
2. Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy;Depienne;Hum Mutat,2006
3. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females;Depienne;PLoS Genet,2009
4. Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients;Depienne;J Med Genet,2009
5. GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies;Dibbens;Hum Mol Genet,2004
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2. Modern achievements in genetic studies of idiopathic generalized epilepsies;Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova;2018
3. Evaluation of the first seizure patient: Key points in the history and physical examination;Seizure;2017-07
4. Sodium Channel β Subunits: Emerging Targets in Channelopathies;Annual Review of Physiology;2015-02-10
5. Brain regions and genes affecting myoclonus in animals;Neuroscience Research;2012-10
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