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Article

Novel CDKL5 mutations were found in patients in China: retrospective investigation in cases of CDKL5-related disorders.

Italian journal of pediatrics - 28 Feb 2020

Yan Yumei, He Dake, Wu Jing, Hou Ruolin, Sun Kun, Li Ling

Abstract excerpt

OBJECTIVE: CDKL5-related disorders (CDD) is an epileptic encephalopathy resulted of gene mutations of CDKL5. This study aimed to explore the development process of CDD and to expand its mutation spectrum. METHODS: Clinic datawas collected about three infantile epileptic encephalopathy cases diagnosed at Xinhua Hospital Affiliated to Shanghai Jiaotong University, School of Medicine. Next generation sequencing...

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China
Electroencephalography
Epileptic Syndromes
Infant
Magnetic Resonance Imaging

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Protein Serine-Threonine Kinases

Spasms, Infantile

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Identifiers

PMID: 32111237
DOI: 10.1186/s13052-020-0775-y
PMCID: PMC7048148

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