Lethal digenic mutations in the K(+) channels Kir4.1 (KCNJ10) and SLACK (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay

A 2-yr-old boy presented profound developmental delay, failure to thrive, ataxia, hypotonia, and tonic-clonic seizures that caused the death of the patient. Targeted and whole exome sequencing revealed two heterozygous missense variants: a novel mutation in the KCNJ10 gene that encodes for the inwar...

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Detalhes bibliográficos
Publicado no:J Neurophysiol
Main Authors: Hasan, Sonia, Balobaid, Ameera, Grottesi, Alessandro, Dabbagh, Omar, Cenciarini, Marta, Rawashdeh, Rifaat, Al-Sagheir, Afaf, Bove, Cecilia, Macchioni, Lara, Pessia, Mauro, Al-Owain, Mohammed, D’Adamo, Maria Cristina
Formato: Artigo
Idioma:Inglês
Publicado em: American Physiological Society 2017
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5646198/
https://ncbi.nlm.nih.gov/pubmed/28747464
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1152/jn.00284.2017
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