A new case with the recurrent PURA p.(Phe233del) pathogenic variant: Expansion of the phenotype and review of the literature.

Ben Issa, Abir; Ben Ayed, Ikhlas; Jallouli, Olfa; Souissi, Amal; Bouchaalla, Wafa; Ben Said, Mariem; Mallouli, Salma; Masmoudi, Saber; Charfi Triki, Chahnez; Hadj Kacem, Hassen; Kammoun, Fatma

Ben Issa, Abir; Ben Ayed, Ikhlas; Jallouli, Olfa; Souissi, Amal; Bouchaalla, Wafa; Ben Said, Mariem; Mallouli, Salma; Masmoudi, Saber; Charfi Triki, Chahnez; Hadj Kacem, Hassen; Kammoun, Fatma.

Afiliación

Ben Issa A; Research Laboratory "Neuropédiatrie" (LR19ES15), Sfax Faculty of Medicine, Sfax University, Sfax, Tunisia.
Ben Ayed I; Child Neurology Department, Hedi Chaker Sfax University Hospital, Sfax, Tunisia.
Jallouli O; Faculty of Medicine of Sfax, Sfax University, Sfax, Tunisia.
Souissi A; Laboratory of Molecular and Cellular Screening Processes, Center of Biotechnology of Sfax, Sfax University, Sfax, Tunisia.
Bouchaalla W; Medical Genetic Department, Hédi Chaker Sfax University Hospital, Sfax, Tunisia.
Ben Said M; Research Laboratory "Neuropédiatrie" (LR19ES15), Sfax Faculty of Medicine, Sfax University, Sfax, Tunisia.
Mallouli S; Child Neurology Department, Hedi Chaker Sfax University Hospital, Sfax, Tunisia.
Masmoudi S; Faculty of Medicine of Sfax, Sfax University, Sfax, Tunisia.
Charfi Triki C; Laboratory of Molecular and Cellular Screening Processes, Center of Biotechnology of Sfax, Sfax University, Sfax, Tunisia.
Hadj Kacem H; Research Laboratory "Neuropédiatrie" (LR19ES15), Sfax Faculty of Medicine, Sfax University, Sfax, Tunisia.
Kammoun F; Child Neurology Department, Hedi Chaker Sfax University Hospital, Sfax, Tunisia.

Int J Dev Neurosci ; 83(4): 383-395, 2023 Jun.

Article en En | MEDLINE | ID: mdl-37204304

Asunto(s)

Epilepsia; Discapacidad Intelectual; Humanos; Encéfalo; Proteínas de Unión al ADN/genética; Epilepsia/genética; Discapacidad Intelectual/genética; Hipotonía Muscular/genética; Mutación/genética; Fenotipo; Factores de Transcripción/genética

Palabras clave

PURA; PURA syndrome; hypotonia; neurodevelopmental delay; whole exome sequencing

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Epilepsia / Discapacidad Intelectual Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Epilepsia / Discapacidad Intelectual Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article