KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood

BACKGROUND: KANSL1 haploinsufficiency causes Koolen-de Vries syndrome (KdVS), characterized by dysmorphic features and intellectual disability; amiable personality, congenital malformations and seizures also commonly occur. The epilepsy phenotypic spectrum in KdVS is broad, but most individuals have...

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Vydáno v:PLoS One
Hlavní autoři: Myers, Kenneth A., McGlade, Amelia, Neubauer, Bernd A., Lal, Dennis, Berkovic, Samuel F., Scheffer, Ingrid E., Hildebrand, Michael S.
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2018
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5774806/
https://ncbi.nlm.nih.gov/pubmed/29352316
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0191546
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