Case Report: Phenotype-Driven Diagnosis of Atypical Dravet-Like Syndrome Caused by a Novel Splicing Variant in the <i>SCN2A</i> Gene.

Sharkov, Artem; Sparber, Peter; Stepanova, Anna; Pyankov, Denis; Korostelev, Sergei; Skoblov, Mikhail

Case Report: Phenotype-Driven Diagnosis of Atypical Dravet-Like Syndrome Caused by a Novel Splicing Variant in the SCN2A Gene.

Sharkov, Artem; Sparber, Peter; Stepanova, Anna; Pyankov, Denis; Korostelev, Sergei; Skoblov, Mikhail.

Afiliação

Sharkov A; Genomed Ltd., Moscow, Russia.
Sparber P; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, Moscow, Russia.
Stepanova A; Research Centre for Medical Genetics, Moscow, Russia.
Pyankov D; Research Centre for Medical Genetics, Moscow, Russia.
Korostelev S; Genomed Ltd., Moscow, Russia.
Skoblov M; Genomed Ltd., Moscow, Russia.

Front Genet ; 13: 888481, 2022.

Article em En | MEDLINE | ID: mdl-35711923

Palavras-chave

Dravet syndrome; Kabuki syndrome; SCN2A; deep phenotyping; functional analysis

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Revista: Front Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Federação Russa

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