Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes. [electronic resource]
Producer: 20160907Description: 392-400 p. digitalISSN:- 1439-1899
- Abnormalities, Multiple -- genetics
- Brain -- pathology
- Brain Diseases -- genetics
- Consanguinity
- Electroencephalography
- Epilepsy -- genetics
- Fatal Outcome
- Female
- Humans
- Infant, Newborn
- Infant, Premature
- Magnetic Resonance Imaging
- Male
- Mutation
- Nuclear Proteins -- genetics
- Phenotype
- Retrospective Studies
- Severity of Illness Index
- Siblings
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Publication Type: Case Reports; Journal Article
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