Transition to adult life in the monogenic epilepsies
Author:
Affiliation:
1. The Florey Institute; Austin Health and Royal Children's Hospital; University of Melbourne; Melbourne Victoria Australia
2. Centre Saint-Paul-Hospital Henri Gastaut; Marseille France
3. Catholic University; Rome Italy
Funder
National Health and Medical Research Council
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/epi.12707/fullpdf
Reference28 articles.
1. Epilepsy and mental retardation limited to females: an under-recognized disorder;Scheffer;Brain,2008
2. Targeted resequencing in epileptic encephalopathies identifies recurrent de novo mutations in CHD2 and SYNGAP1;Carvill;Nat Genet,2013
3. Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability;Derry;Epilepsia,2008
4. Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy;Heron;Nat Genet,2012
5. Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2;Scheffer;Ann Neurol,1998
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2. Epilepsy Genetics and Precision Medicine in Adults: A New Landscape for Developmental and Epileptic Encephalopathies;Frontiers in Neurology;2022-02-17
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