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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8075573/
https://www.ncbi.nlm.nih.gov/pubmed/33912662
http://dx.doi.org/10.1212/NXG.0000000000000579

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