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Article

Novel COL4A2 mutation causing familial malformations of cortical development.

European review for medical and pharmacological sciences - 1 Jan 2021

Neri S, Ferlazzo E, Africa E, Versace P, Ascoli M, Mastroianni G, Cianci V, Aguglia U, Gasparini S

Abstract excerpt

OBJECTIVE: This article aimed to describe a novel COL4A2 mutation and the phenotypic features of two family members presenting with epilepsy and cortical development malformations. PATIENTS AND METHODS: The first patient is a 65-year-old woman with hematuria and adult-onset seizures. Brain MRI showed closed lip schizencephaly of right lateral sulcus associated with polymicrogyria of the surrounding cortex and...

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Identifiers

PMID: 33577044
DOI: 10.26355/eurrev_202101_24658

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