A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia-Reference-Cited by-同舟云学术

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A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia

Published:2018-08 Issue:8 Volume:61 Page:451-454
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Akamine Satoshi,Ishizaki Yoshito,Sakai Yasunari^ORCID,Torisu Hiroyuki^ORCID,Fukai Ryoko,Miyake Noriko,Ohkubo Kazuhiro,Koga Hiroshi,Sanefuji Masafumi,Sakata Ayumi,Kimura Masahiko,Yamaguchi Seiji,Sakamoto Osamu,Hara Toshiro,Saitsu Hirotomo^ORCID,Matsumoto Naomichi,Ohga Shouichi

Funder

JSPS KAKENHI

Ministry of Health, Labour and Welfare

Life Science Foundation of Japan

Takeda Science Foundation

Mother and Child Health Foundation

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference10 articles.

1. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients;Archer;J. Med. Genet.,2006

2. The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy;Fehr;Eur. J. Hum. Genet.,2013

3. Causes of and diagnostic approach tomethylmalonic acidurias;Fowler;J. Inherit. Metab. Dis.,2008

4. Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome;Mangatt;Orphanet J. Rare Dis.,2016

5. CDKL5 and ARX mutations in males with early-onset epilepsy;Mirzaa;Pediatr. Neurol.,2013

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1. CDKL5 deficiency disorder in males: Five new variants and review of the literature;European Journal of Paediatric Neurology;2021-07

2. CDKL5 Gene: Beyond Rett Syndrome;Journal of Pediatric Neurology;2021-04-13

3. Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants;Brain and Development;2021-04

4. In vivo magnetic resonance spectroscopy in the brain of Cdkl5 null mice reveals a metabolic profile indicative of mitochondrial dysfunctions;Journal of Neurochemistry;2021-02-02

5. X-linked cellular mosaicism underlies age-dependent occurrence of seizure-like events in mouse models of CDKL5 deficiency disorder;Neurobiology of Disease;2021-01

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