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Article

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

PloS one - 1 Jan 2018

Myers Kenneth A, McGlade Amelia, Neubauer Bernd A, Lal Dennis, Berkovic Samuel F, Scheffer Ingrid E, Hildebrand Michael S

Abstract excerpt

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 focal seizures with some having a phenotype resembling the self-limited focal epilepsies of childhood (SFEC). We...

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Source

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Identifiers

PMID: 29352316
DOI: 10.1371/journal.pone.0191546
PMCID: PMC5774806

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Source receipt: pubmed, retrieved 7 Sept 2026.

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