Electroclinical variability of pyridoxine-dependent epilepsy caused by ALDH7A1 gene mutations in four Taiwanese children

doi:10.1016/j.braindev.2020.02.005

中山醫學大學機構典藏 CSMUIR > 中山醫學大學研究成果 > 期刊論文 > Item 310902500/24596

Please use this identifier to cite or link to this item: https://ir.csmu.edu.tw:8080/ir/handle/310902500/24596

Title:	Electroclinical variability of pyridoxine-dependent epilepsy caused by ALDH7A1 gene mutations in four Taiwanese children
Authors:	Lee, HF;Chi, CS;Tsai, CR
Keywords:	ALDH7A1 gene;Atypical phenotype;Early onset epileptic encephalopathy;Pyridoxine-dependent epilepsy
Date:	2020
Issue Date:	2022-08-09T08:04:56Z (UTC)
Publisher:	ELSEVIER
ISSN:	0387-7604
Abstract:	Background: The aim of this study was to describe the electroclinical variability of four Taiwanese patients with pyridoxine-dependent epilepsy (PDE) caused by ALDH7A1 gene mutations. Methods: Demographic data, case histories, clinical seizure patterns, EEG features, neuroimaging findings, ALDH7A1 gene mutations, treatments, and neurodevelopmental outcomes of the four patients were collected and analyzed. Results: The four patients exhibited the first symptom between the ages of 6 days and 11 months. The age of diagnosis was between 2 months and 13 years 8 months. Patient 1 exhibited classical phenotype of PDE, neonatal onset epileptic encephalopathy. Patient 2 showed atypical phenotypes of intractable epilepsy with additional neurological and abdominal symptoms. Patients 3 and 4, who had normal neurodevelopment, had familial epilepsy with fever sensitivity. Patients 2, 3, and 4 had atypical phenotypes and showed seizure exacerbation during febrile infections. EEG features of patient 1 revealed alternating rhythmic discharges followed by electrodecremental episodes; while those of patients 2, 3, and 4 disclosed nonspecific findings or normal results. Administration of oral pyridoxine hydrochloride resulted in seizure cessation in patients 1, 3, and 4, and they achieved normal neurodevelopmental outcomes, but intractable epilepsy and profound mental retardation occurred in patient 2 as he was not diagnosed until he was 13 years and 8 months old. Conclusion: Electroclinical features of PDE vary widely, including patients with normal neurodevelopment and normal or nonspecific EEG findings. To avoid delay in treatment, a therapeutic trial with pyridoxine hydrochloride should be performed in all cases of neonatal, infantile, and childhood refractory epilepsy until ALDH7A1 gene mutation-related PDE has been excluded. Pyridoxine treatment may show clinical effectiveness even in a relatively late stage, i.e., age older than one year. (C) 2020 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
URI:	http://dx.doi.org/10.1016/j.braindev.2020.02.005 https://www.webofscience.com/wos/woscc/full-record/WOS:000527287200004 https://ir.csmu.edu.tw:8080/handle/310902500/24596
Relation:	BRAIN & DEVELOPMENT ,2020 ,v42 ,issue 5 ,p393-401
Appears in Collections:	[中山醫學大學研究成果] 期刊論文

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