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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Public Library of Science
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5774806/ https://www.ncbi.nlm.nih.gov/pubmed/29352316 http://dx.doi.org/10.1371/journal.pone.0191546 |