Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient-Reference-Cited by-同舟云学术

Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient

Published:2016-05 Issue:3 Volume:20 Page:421-425
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Fernández-Jaén Alberto,Álvarez Sara,Young So Eui,Ouchi Toru,Jiménez de la Peña Mar,Duat Anna,Martín Fernández-Mayoralas Daniel,Fernández-Perrone Ana Laura,Albert Jacobo,Calleja-Pérez Beatriz

Funder

National Institutes of Health, USA

Publisher

Elsevier BV

Subject

Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health

Reference18 articles.

1. Incidence rates of progressive childhood encephalopathy in Oslo, Norway: a population based study;Stromme;BMC Pediatr,2007

2. Understanding neurodegenerative disorders;Surtees;Curr Paediatr,2002

3. [Epidemiology of progressive intellectual and neurological deterioration in childhood. A multicentre study in the Community of Valencia];Tomas Vila;An Pediatr,2013

4. Consanguineous marriage and its clinical consequences in migrants to Australia;Nelson;Clin Genet,1997

5. Consanguineous unions and the burden of disability: a population-based study in communities of Northeastern Brazil;Weller;Am J Hum Biol official J Hum Biol Counc,2012

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

5. 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