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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Neurol Genet
Κύριοι συγγραφείς: 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.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Wolters Kluwer 2021
Θέματα:
Article
Διαθέσιμο Online: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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