International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder

CDKL5 Deficiency Disorder (CDD) is a rare, X-linked dominant condition that causes a developmental and epileptic encephalopathy (DEE). The incidence is between ~ 1:40,000 and 1:60,000 live births. Pathogenic variants in CDKL5 lead to seizures from infancy and severe neurodevelopmental delay. During...

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Главные авторы:	Sam Amin, Marie Monaghan, Angel Aledo-Serrano, Nadia Bahi-Buisson, Richard F. Chin, Angus J. Clarke, J. Helen Cross, Scott Demarest, Orrin Devinsky, Jenny Downs, Elia M. Pestana Knight, Heather Olson, Carol-Anne Partridge, Graham Stuart, Marina Trivisano, Sameer Zuberi, Tim A. Benke
Формат:	Artigo
Язык:	Inglês
Опубликовано:	Frontiers Media S.A. 2022-06-01
Серии:	Frontiers in Neurology
Предметы:	CDKL5 deficiency disorder cyclin-dependent kinase-like 5 developmental and epileptic encephalopathy care guideline consensus methods Delphi methods
Online-ссылка:	https://www.frontiersin.org/articles/10.3389/fneur.2022.874695/full
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