title: TUBA1A mutation-associated lissencephaly: case report and review of the literature.
abstract: Lissencephaly is a disorder of neuronal migration resulting in abnormal cerebral cortical sulcation and gyration. Affected children present with microcephaly, developmental delay, and early-onset epileptic seizures. Recently, de novo missense mutations in the tubulin α-1A (TUBA1A) gene were identified as causing a distinctive radiologic phenotype comprising of posteriorly predominant lissencephaly with dysgenetic corpus callosum, cerebellar and brainstem hypoplasia, and more recently, polymicrogyria. We describe a 14-month-old girl with TUBA1A mutation-associated lissencephaly, and summarize the clinical and neuroradiologic findings of 19 cases in the literature.
authors.affiliation: Department of Pediatric Neurology, Great North Children's Hospital, Newcastle-upon-Tyne, UK. manusohal@rediffmail.com
authors.forename: Aman P S
authors.initials: AP
authors.lastname: Sohal
authors.forename: Tara
authors.initials: T
authors.lastname: Montgomery
authors.forename: Dipayan
authors.initials: D
authors.lastname: Mitra
authors.forename: Venkateswaran
authors.initials: V
authors.lastname: Ramesh
mesh_terms: D001921:Brain / Q000002:abnormalities*; D002465:Cell Movement / Q000235:genetics; D004827:Epilepsy / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D054082:Lissencephaly / Q000235:genetics*; D010641:Phenotype; D014404:Tubulin / Q000235:genetics*
chemical_list: C533522:TUBA1A protein, human; D014404:Tubulin