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Angelman syndrome presenting with a rare seizure type in a patient with 15q11.2 deletion: a case report

INTRODUCTION: Angelman syndrome, a neurodevelopmental genetic disorder associated with abnormalities in chromosome15q11-q13, is inherited from the mother. Epilepsy is seen in 85 % of children with Angelman syndrome within the first 3 years of life and is often severe and difficult to control. CASE P...

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Pubblicato in:J Med Case Rep
Autori principali: Ranasinghe, Jagath C., Chandradasa, Damitha, Fernando, Sanjaya, Kodithuwakku, Uditha, Mandawala, D.E.N., Dissanayake, Vajira HW
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2015
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4480448/
https://ncbi.nlm.nih.gov/pubmed/26077608
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13256-015-0622-8
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