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Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome

Abstract Background Phelan-McDermid syndrome (PMS) is a genetic neurodevelopmental disorder caused by SHANK3 haploinsufficiency and is associated with an increased risk for seizures. Previous literature indicates that around one third of individuals with PMS also have epilepsy or seizures, with a wi...

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Autori principali: Tess Levy, Jacob Gluckman, Paige M. Siper, Danielle Halpern, Jessica Zweifach, Rajna Filip-Dhima, J. Lloyd Holder, M. Pilar Trelles, Kristina Johnson, Jonathan A. Bernstein, Elizabeth Berry-Kravis, Craig M. Powell, Latha Valluripalli Soorya, Audrey Thurm, Joseph D. Buxbaum, Mustafa Sahin, Alexander Kolevzon, Siddharth Srivastava, on behalf of the Developmental Synaptopathies Consortium
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMC 2024-05-01
Serie:Journal of Neurodevelopmental Disorders
Soggetti:
Phelan-McDermid syndrome
22q13
SHANK3
Seizures
Epilepsy
Accesso online:https://doi.org/10.1186/s11689-024-09541-0
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