A challenging case of epilepsy in infancy with migrating focal seizures due to a de novo KCNT1 missense variant (c.1438G>A, p.Asp480Asn).

León-Ruiz, Moisés; Alonso-Singer, Pablo; Merino-Andreu, Milagros; Castañeda-Cabrero, Carlos

León-Ruiz, Moisés; Alonso-Singer, Pablo; Merino-Andreu, Milagros; Castañeda-Cabrero, Carlos.

Afiliação

León-Ruiz M; Section of Clinical Neurophysiology, Department of Neurology, La Paz University Hospital, Madrid, Spain; Pediatric Clinical Neurophysiology Unit, Department of Neurology, La Paz University Hospital, Madrid, Spain. Electronic address: pistolpete271285@hotmail.com.
Alonso-Singer P; Refractory Epilepsy Unit, Department of Neurology, La Paz University Hospital, Madrid, Spain.
Merino-Andreu M; Section of Clinical Neurophysiology, Department of Neurology, La Paz University Hospital, Madrid, Spain; Pediatric Clinical Neurophysiology Unit, Department of Neurology, La Paz University Hospital, Madrid, Spain; Pediatric Sleep Disorders Unit, Department of Neurology, La Paz University Hospital, M
Castañeda-Cabrero C; Section of Clinical Neurophysiology, Department of Neurology, La Paz University Hospital, Madrid, Spain; Pediatric Clinical Neurophysiology Unit, Department of Neurology, La Paz University Hospital, Madrid, Spain.

Seizure ; 117: 202-205, 2024 Apr.

Article em En | MEDLINE | ID: mdl-38461786

Assuntos

Mutação de Sentido Incorreto; Humanos; Lactente; Canais de Potássio Ativados por Sódio/genética; Convulsões/genética; Proteínas do Tecido Nervoso/genética; Masculino; Epilepsia/genética; Canais de Potássio de Abertura Dependente da Tensão da Membrana/genética; Feminino; Epilepsias Parciais/genética; Epilepsias Parciais/fisiopatologia; Eletroencefalografia

Palavras-chave

De novo KCNT1 missense variant (c.1438G>A, p.Asp480Asn); Epilepsy in infancy with migrating focal seizures; KCNT1-related epilepsy; Long-term v-EEG monitoring; Paralytic ileus; Whole exome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto Limite: Female / Humans / Infant / Male Idioma: En Revista: Seizure Ano de publicação: 2024 Tipo de documento: Article

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