Lethal neonatal rigidity and multifocal seizure syndrome with a new mutation in BRAT1
Author:
Publisher
Elsevier BV
Subject
Behavioral Neuroscience,Neurology (clinical),Neurology
Reference6 articles.
1. Genetic mapping and exome sequencing identify variants associated with five novel diseases;Puffenberger;PLoS One,2012
2. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units;Saunders;Sci Transl Med,2012
3. Lethal neonatal rigidity and multifocal seizure syndrome — report of another family with a BRAT1 mutation;Straussberg;Eur J Paediatr Neurol,2015
4. Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly;Saitsu;J Hum Genet,2014
5. Lethal neonatal rigidity and multifocal seizure syndrome-a misnamed disorder?;Hanes;Pediatr Neurol,2015
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1. Clinical characteristics of BRAT1-related disease: a systematic literature review;Acta Neurologica Belgica;2024-04-12
2. BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients;European Journal of Human Genetics;2023-06-21
3. Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy;Neurology;2023-03-21
4. Case report: 7p22.3 deletion and 8q24.3 duplication in a patient with epilepsy and psychomotor delay—Does both possibly act to modulate a candidate gene region for the patient’s phenotype?;Frontiers in Genetics;2023-01-09
5. First Successful Application of Preimplantation Genetic Diagnosis for Lethal Neonatal Rigidity and Multifocal Seizure Syndrome in Korea: A Case Report;Neonatal Medicine;2022-11-30
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