A very rare form of autosomal dominant progressive myoclonus epilepsy caused by a novel variant in the PRICKLE1 gene-Reference-Cited by-同舟云学术

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A very rare form of autosomal dominant progressive myoclonus epilepsy caused by a novel variant in the PRICKLE1 gene

Published:2019-07 Issue: Volume:69 Page:133-139
ISSN:1059-1311
Container-title:Seizure
language:en
Short-container-title:Seizure

Author:

Algahtani Hussein,Al-Hakami Fahad,Al-Shehri Mohammed,Shirah Bader,Al-Qahtani Mohammad H.,Abdulkareem Angham Abdulrahman,Naseer Muhammad Imran

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology,General Medicine

Reference37 articles.

1. The progressive myoclonic epilepsies;Malek;Pract Neurol,2015

2. Clinical picture of EPM1-Unverricht-Lundborg disease;Kälviäinen;Epilepsia,2008

3. PRICKLE1-related progressive myoclonus epilepsy with ataxia;Fox,1993

4. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet Med,2015

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