An intronic variant in BRAT1 creates a cryptic splice site, causing epileptic encephalopathy without prominent rigidity.

Colak, Fatma Kurt; Guleray, Naz; Azapagasi, Ebru; Yazici, Mutlu Uysal; Aksoy, Erhan; Ceylan, Nesrin

Colak, Fatma Kurt; Guleray, Naz; Azapagasi, Ebru; Yazici, Mutlu Uysal; Aksoy, Erhan; Ceylan, Nesrin.

Afiliação

Colak FK; Department of Medical Genetics, Dr. Sami Ulus Maternity and Children's Training and Research Hospital, Ankara, Turkey. drfatmakurt@gmail.com.
Guleray N; Department of Medical Genetics, Dr. Sami Ulus Maternity and Children's Training and Research Hospital, Ankara, Turkey.
Azapagasi E; Division of Pediatric Intensive Care Unit, Dr. Sami Ulus Maternity and Children's Training and Research Hospital, Ankara, Turkey.
Yazici MU; Division of Pediatric Intensive Care Unit, Dr. Sami Ulus Maternity and Children's Training and Research Hospital, Ankara, Turkey.
Aksoy E; Department of Pediatric Neurology, Dr. Sami Ulus Maternity and Children's Training and Research Hospital, Ankara, Turkey.
Ceylan N; Department of Pediatric Neurology, Dr. Sami Ulus Maternity and Children's Training and Research Hospital, Ankara, Turkey.

Acta Neurol Belg ; 120(6): 1425-1432, 2020 Dec.

Article em En | MEDLINE | ID: mdl-33040300

Assuntos

Proteínas Nucleares/genética; Espasmos Infantis/genética; Consanguinidade; Evolução Fatal; Humanos; Lactente; Recém-Nascido; Masculino; Mutação

Palavras-chave

BRAT1; Migrating focal seizure; Pontocerebellar hypoplasia; Splice variant

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Limite: Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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