Extending the clinical phenotype of SPTAN1 : From DEE5 to migraine, epilepsy, and subependymal heterotopias without intellectual disability-Reference-Cited by-同舟云学术

Extending the clinical phenotype of SPTAN1 : From DEE5 to migraine, epilepsy, and subependymal heterotopias without intellectual disability

Published:2021-09-30 Issue:1 Volume:188 Page:147-159
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Marco Hernández Ana Victoria¹²^ORCID,Caro Alfonso¹^ORCID,Montoya Filardi Alejandro³^ORCID,Tomás Vila Miguel²^ORCID,Monfort Sandra¹^ORCID,Beseler Soto Beatriz²,Nieto‐Barceló Juan José²^ORCID,Martínez Francisco¹^ORCID

Affiliation:

1. Genetics Unit Hospital Universitari i Politècnic La Fe Valencia Spain

2. Neuropediatrics Section Hospital Universitari i Politècnic La Fe Valencia Spain

3. Radiology Service Hospital Universitari i Politècnic La Fe Valencia Spain

Funder

Fundación Mutua Madrileña

Instituto de Salud Carlos III

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62507

Reference39 articles.

1. STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies

2. Towards a molecular characterization of autism spectrum disorders: an exome sequencing and systems approach

3. Early-onset epileptic encephalopathy with myoclonic seizures related to 9q33.3-q34.11 deletion involving STXBP1 and SPTAN1 genes

4. Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy

5. Spectrin and Ankyrin-Based Pathways: Metazoan Inventions for Integrating Cells Into Tissues

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