LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity.

doi:10.1001/archneurol.2009.149

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Article

LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity.

Archives of neurology - 1 Aug 2009

Saillour Yoann, Carion Nathalie, Quelin Chloé, Leger Pierre-Louis, Boddaert Nathalie, Elie Caroline, Toutain Annick, Mercier Sandra, Barthez Marie Anne, Milh Mathieu, Joriot Sylvie, des Portes Vincent, Philip Nicole, Broglin Dominique, Roubertie Agathe, Pitelet Gaelle, Moutard Marie Laure, Pinard Jean Marc, Cances Claude, Kaminska Anna, Chelly Jamel, Beldjord Chérif, Bahi-Buisson Nadia

Abstract excerpt

OBJECTIVE: With the largest data set of patients with LIS1-related lissencephaly, the major cause of posteriorly predominant lissencephaly related to either LIS1 mutation or intragenic deletion, described so far, we aimed to refine the spectrum of neurological and radiological features and to assess relationships with the genotype. DESIGN: Retrospective study. Subjects A total of 63 patients with posteriorly...

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PMID: 19667223
DOI: 10.1001/archneurol.2009.149

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