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Article

Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria.

Neurogenetics - 1 Nov 2013

Valence Stéphanie, Poirier Karine, Lebrun Nicolas, Saillour Yoann, Sonigo Pascale, Bessières Bettina, Attié-Bitach Tania, Benachi Alexandra, Masson Cécile, Encha-Razavi Ferechté, Chelly Jamel, Bahi-Buisson Nadia

Abstract excerpt

Polymicrogyria (PMG) is a clinically heterogeneous malformation of cortical development, characterized by a loss of the normal gyral pattern that is replaced by many small and infolded gyri separated by shallow sulci that are partly fused in their depths. Causes of PMG are heterogeneous and include acquired and genetic causes. There are more than 100 syndromes possibly associated with PMG but mutations in...

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Identifiers

PMID: 24072599
DOI: 10.1007/s10048-013-0373-x

Genes

NHEJ1
TUBA8
TUBB3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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