Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants

Investigators from Institut für Medizinische Genetik und Humangenetik have highlighted the role of compound heterozygous BRAT1 variants in two German brothers with variable presentations of intractable epilepsy, poor development, postnatal microcephaly, hypertonia, apnea, and infantile/childhood dea...

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Detalles Bibliográficos
Autores principales: Srivastava, Siddharth, Naidu, Sakkubai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pediatric Neurology Briefs Publishers 2016
Materias:
Genetic Disorders
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133044/
https://www.ncbi.nlm.nih.gov/pubmed/27956813
http://dx.doi.org/10.15844/pedneurbriefs-30-12-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133044/
https://www.ncbi.nlm.nih.gov/pubmed/27956813
http://dx.doi.org/10.15844/pedneurbriefs-30-12-1

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