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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Pediatric Neurology Briefs Publishers
2016
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| 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 |