Early‐onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits ( SCA42ND ): Case report, pharmacological trial, and literature review-Reference-Cited by-同舟云学术

Early‐onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits ( SCA42ND ): Case report, pharmacological trial, and literature review

Published:2020-10-24 Issue:1 Volume:185 Page:256-260
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Casas‐Alba Dídac¹²,López‐Sala Laura¹,Pérez‐Ordóñez Marta¹,Mari‐Vico Rosanna¹,Bolasell Mercè²,Martínez‐Monseny Antonio F.²,Muchart Jordi³,Fernández‐Fernández José M.⁴,Martorell Loreto²⁵,Serrano Mercedes¹⁵^ORCID

Affiliation:

1. Department of Pediatric Neurology and Early Stimulation Unit Institut de Recerca, Hospital Sant Joan de Déu Barcelona Spain

2. Department of Genetic and Molecular Medicine IPER Institut de Recerca, Hospital Sant Joan de Déu Barcelona Barcelona Spain

3. Department of Radiology Hospital Sant Joan de Déu Barcelona Barcelona Spain

4. Department de Ciències Experimentals i de la Salut, Laboratori de Fisiologia Molecular Universitat Pompeu Fabra Barcelona Spain

5. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) Instituto de Salud Carlos III Barcelona Spain

Funder

AGAUR

Instituto de Salud Carlos III

Ministerio de Ciencia e Innovación

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61939

Reference12 articles.

1. Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations

2. De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

3. Congenital Disorders of Glycosylation: A Review

4. Treatment of intractable resting tremor of spinocerebellar ataxia 42 with zonisamide

5. Mechanisms of T-type calcium channel blockade by zonisamide

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