Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder

OBJECTIVE: To describe the phenotypic spectrum in patients with MBD5-associated neurodevelopmental disorder (MAND) and seizures; features of MAND include intellectual disability, epilepsy, psychiatric features of aggression and hyperactivity, and dysmorphic features including short stature and micro...

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Detalhes bibliográficos
Publicado no:Neurol Genet
Main Authors: Myers, Kenneth A., Marini, Carla, Carvill, Gemma L., McTague, Amy, Panetta, Julie, Stutterd, Chloe, Stanley, Thorsten, Marin, Samantha, Nguyen, John, Barba, Carmen, Rosati, Anna, Scott, Richard H., Mefford, Heather C., Guerrini, Renzo, Scheffer, Ingrid E.
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer 2021
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8075573/
https://ncbi.nlm.nih.gov/pubmed/33912662
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000579
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