A Novel SLC1A4 Mutation (p.Y191*) Causes Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM) With Seizure Disorder

Spastic tetraplegia, thin corpus callosum, and progressive microcephaly is a recently described very rare autosomal recessive neurodevelopmental disorder. This disease was first described in 2015 in several families from the Ashkenazi Jewish ancestry with a founder mutation in SLC1A4 (p.E256K) as th...

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Detalles Bibliográficos
Autores principales: Abdelrahman, Hanadi A., Al-Shamsi, Aisha, John, Anne, Ali, Bassam R., Al-Gazali, Lihadh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2019
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6852354/
https://www.ncbi.nlm.nih.gov/pubmed/31763347
http://dx.doi.org/10.1177/2329048X19880647

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6852354/
https://www.ncbi.nlm.nih.gov/pubmed/31763347
http://dx.doi.org/10.1177/2329048X19880647

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