Case Report: Developmental Delay and Acute Neuropsychiatric Episodes Associated With a <i>de novo</i> Mutation in the <i>CAMK2B</i> Gene (c.328G>A p.Glu110Lys).

Dwyer, Bonnie K; Veenma, Danielle C M; Chang, Kiki; Schulman, Howard; Van Woerden, Geeske M

Case Report: Developmental Delay and Acute Neuropsychiatric Episodes Associated With a de novo Mutation in the CAMK2B Gene (c.328G>A p.Glu110Lys).

Dwyer, Bonnie K; Veenma, Danielle C M; Chang, Kiki; Schulman, Howard; Van Woerden, Geeske M.

Afiliação

Dwyer BK; Department of Maternal Fetal Medicine and Genetics, Palo Alto Medical Foundation, Mountain View, CA, United States.
Veenma DCM; Department of Pediatrics, Erasmus MC, University Medical Center, Rotterdam, Netherlands.
Chang K; ENCORE Expertise Center, Erasmus MC, University Medical Center, Rotterdam, Netherlands.
Schulman H; University of Texas Houston Health Science Center, Houston, TX, United States.
Van Woerden GM; Department of Neurobiology, Stanford University, School of Medicine, Stanford, CA, United States.

Front Pharmacol ; 13: 794008, 2022.

Article em En | MEDLINE | ID: mdl-35620293

Palavras-chave

CAMKIIß; Camk2b; acute periodic neuropsychiatric episode; ca/calmodulin dependent protein kinase 2B; case report; developmental delay; encephalopathy; human genetics

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Clinical_trials / Risk_factors_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Clinical_trials / Risk_factors_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article