Lethal neonatal rigidity and multifocal seizure syndrome – Report of another family with a BRAT1 mutation-Reference-Cited by-同舟云学术

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Lethal neonatal rigidity and multifocal seizure syndrome – Report of another family with a BRAT1 mutation

Published:2015-03 Issue:2 Volume:19 Page:240-242
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Straussberg Rachel,Ganelin-Cohen Esther,Goldberg-Stern Hadassah,Tzur Shay,Behar Doron M.,Smirin-Yosef Pola,Salmon-Divon Mali,Basel-Vanagaite Lina

Publisher

Elsevier BV

Subject

Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health

Reference8 articles.

1. Genes of early-onset epileptic encephalopathies: from genotype to phenotype;Mastrangelo;Pediatr Neurol,2012

2. Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life;Thevenon;Am J Hum Genet,2014

3. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE commission on classification and terminology;Berg;Epilepsia,2010

4. Genetic mapping and exome sequencing identify variants associated with five novel diseases;Puffenberger;PLoS One,2012

5. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units;Saunders;Sci Trans Med,2012

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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. Bi-allelic variants in INTS11 are associated with a complex neurological disorder;The American Journal of Human Genetics;2023-05

4. Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy;Neurology;2023-03-21

5. BRAT1 Mutation Retrospective Diagnosis: A Case Report;Cureus;2023-03-01

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