A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1-Reference-Cited by-同舟云学术

A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1

Published:2018-10-05 Issue:3 Volume:27 Page:337-339
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

AME van der Beek Nadine^ORCID,Nelson Isabelle,Froissart Roseline,Levade Thierry,Garcia Virginie,Lacene Emmanuelle,Boland Anne,Masson Cécile,Romero Norma B.,Stojkovic Tanya,Bonne Gisèle^ORCID,Béhin Anthony

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s41431-018-0250-z.pdf

Reference10 articles.

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2. Zhou J, Tawk M, Tiziano FD, Veillet J, Bayes M, Nolent F, et al. Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. Am J Hum Genet. 2012;91:5–14.

3. Dyment DA, Sell E, Vanstone MR, Smith AC, Garandeau D, Garcia V, et al. Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy. Clin Genet. 2014;86:255–563.

4. Gan JJ, Garcia V, Tian J, Tagliati M, Parisi JE, Chung JM, et al. Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy. Neuromuscul Disord. 2015;25:959–63.

5. Rubboli G, Veggiotti P, Pini A, Berardinelli A, Cantalupo G, Bertini E et al. Spinal muscular atrophy associated with progressive myoclonic epilepsy: a rare condition caused by mutations in ASAH1. Epilepsia. 2015;56:692–8.

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