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...
| Main Authors: | , |
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| Format: | Online |
| Language: | English |
| Published: |
Pediatric Neurology Briefs Publishers
2016
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133044/ |
| Summary: | 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 death. |
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