Quantitative retrospective natural history modeling of <i>WDR45</i>-related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published cases.

Saffari, Afshin; Schröter, Julian; Garbade, Sven F; Alecu, Julian E; Ebrahimi-Fakhari, Darius; Hoffmann, Georg F; Kölker, Stefan; Ries, Markus; Syrbe, Steffen

Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published cases.

Saffari, Afshin; Schröter, Julian; Garbade, Sven F; Alecu, Julian E; Ebrahimi-Fakhari, Darius; Hoffmann, Georg F; Kölker, Stefan; Ries, Markus; Syrbe, Steffen.

Afiliación

Saffari A; Division of Pediatric Epileptology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Schröter J; Division of Neuropediatrics and Inherited Metabolic Diseases, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Garbade SF; Division of Pediatric Epileptology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Alecu JE; Division of Neuropediatrics and Inherited Metabolic Diseases, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Ebrahimi-Fakhari D; Division of Neuropediatrics and Inherited Metabolic Diseases, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Hoffmann GF; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Kölker S; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Ries M; Division of Neuropediatrics and Inherited Metabolic Diseases, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Syrbe S; Division of Neuropediatrics and Inherited Metabolic Diseases, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

Autophagy ; 18(7): 1715-1727, 2022 07.

Article en En | MEDLINE | ID: mdl-34818117

Asunto(s)

Encefalopatías; Proteínas Portadoras; Diagnóstico Tardío; Autofagia/fisiología; Encefalopatías/genética; Proteínas Portadoras/genética; Estudios Transversales; Femenino; Humanos; Lactante; Masculino; Estudios Retrospectivos

Palabras clave

BPAN; Beta-propeller protein-associated neurodegeneration; DEE; NBIA; NBIA5; NDD; WDR45; WIPI4; congenital disorder of autophagy

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Encefalopatías / Proteínas Portadoras / Diagnóstico Tardío Tipo de estudio: Diagnostic_studies / Guideline / Observational_studies / Prevalence_studies / Prognostic_studies Límite: Female / Humans / Infant / Male Idioma: En Revista: Autophagy Año: 2022 Tipo del documento: Article País de afiliación: Alemania

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google