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Article

A novel homozygous splice-site mutation in SCARB2 is associated with progressive myoclonic epilepsy with renal failure.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Dec 2021

Yari Abolfazl, Ali-Nejad Reza Molla, Saleh-Gohari Nasrollah

Abstract excerpt

BACKGROUND: Progressive myoclonic epilepsy-4 with or without renal failure (EPM4) is a rare neurological autosomal recessive disorder caused by mutations in SCARB2 gene. In this study, we described clinical features and genetic causes of an Iranian family with two affected individuals whose clinical manifestations closely resembled progressive myoclonus epilepsy. METHODS: Our proband was a 38-year-old male with a...

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PMID: 33772352
DOI: 10.1007/s10072-021-05196-0

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