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Lissencephaly in an epilepsy cohort: Molecular, radiological and clinical aspects.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jan 2021

Kolbjer Sintia, Martin Daniel A, Pettersson Maria, Dahlin Maria, Anderlid Britt-Marie

Abstract excerpt

INTRODUCTION: Lissencephaly is a rare malformation of cortical development due to abnormal transmantle migration resulting in absent or reduced gyration. The lissencephaly spectrum consists of agyria, pachygyria and subcortical band heterotopia. In this study we compared genetic aetiology, neuroradiology, clinical phenotype and response to antiepileptic drugs in patients with epilepsy and lissencephaly spectrum...

Topics

1-Alkyl-2-acetylglycerophosphocholine Esterase
Adolescent
Anticonvulsants
Child
Child, Preschool
Female
Humans
Infant
Lissencephaly
Male
Microtubule-Associated Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Phenotype

Retrospective Studies

Tubulin

Source

Identifiers

PMID: 33453472
DOI: 10.1016/j.ejpn.2020.12.011

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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