Benign familial infantile epilepsy associated with KCNQ3 mutation: a rare occurrence or an underestimated event?

Nardello, Rosaria; Mangano, Giuseppe Donato; Miceli, Francesco; Fontana, Antonina; Piro, Ettore; Salpietro, Vincenzo

Nardello, Rosaria; Mangano, Giuseppe Donato; Miceli, Francesco; Fontana, Antonina; Piro, Ettore; Salpietro, Vincenzo.

Afiliação

Nardello R; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical, Specialities "G. D'Alessandro," University of Palermo, Palermo, Italy.
Mangano GD; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical, Specialities "G. D'Alessandro," University of Palermo, Palermo, Italy.
Miceli F; Unit of Pharmacology, Department of Neuroscience, Reproductive and Odontostomatological Sciences, School of Medicine, University of Naples Federico II, Naples, Italy.
Fontana A; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical, Specialities "G. D'Alessandro," University of Palermo, Palermo, Italy.
Piro E; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical, Specialities "G. D'Alessandro," University of Palermo, Palermo, Italy.
Salpietro V; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.

Epileptic Disord ; 22(6): 807-810, 2020 Dec 01.

Article em En | MEDLINE | ID: mdl-33337327

Assuntos

Epilepsia Neonatal Benigna/genética; Epilepsia Neonatal Benigna/fisiopatologia; Canal de Potássio KCNQ3/genética; Humanos; Lactente; Masculino; Mutação de Sentido Incorreto

Palavras-chave

BFIE; KCNQ3; benign familial infantile epilepsy; incidence; mutation

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Epilepsia Neonatal Benigna / Canal de Potássio KCNQ3 Tipo de estudo: Risk_factors_studies Limite: Humans / Infant / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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