复合杂合致病性PLPBP变异引起的晚发型维生素b6依赖性癫痫。

IF 1.7 4区医学 Q3 GENETICS & HEREDITY

European journal of medical genetics Pub Date : 2025-09-19 DOI:10.1016/j.ejmg.2025.105047

Sadao Nakamura, Yasutsugu Chinen, Hirotaka Minema, Ryoko Honda, Tomonori Ono, Takeshi Mizuguchi, Naomichi Matsumoto, Koichi Nakanishi

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引用次数: 0

摘要

有证据表明，PLPBP基因的致病性变异可导致维生素B6依赖性癫痫，这种疾病的特征是对维生素B6补充有反应的新生儿癫痫发作。本文报告1例日本女孩因PLPBP基因NM_007198.4: c. 275a >G (p. H92R) (novel) /c的复合杂合变异体引起的维生素b6依赖性癫痫。319G>A (p. A107T)（已报道），患者在8个月大时发病，但在10岁时被诊断出来。即使在新生儿期后，维生素b6依赖性癫痫也应被视为难治性癫痫的鉴别诊断，基因分析对其诊断和治疗有用。

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Late-onset Vitamin B6-dependent epilepsy caused by compound heterozygous pathogenic PLPBP variants.

Evidence has shown that pathogenic variants of the PLPBP gene can cause vitamin B6-dependent epilepsy, a condition characterized by neonatal-onset seizures that respond to vitamin B6 supplementation. In this paper, we report a case of vitamin B6-dependent epilepsy in a Japanese girl caused by compound heterozygous variants in PLPBP, NM_007198.4: c.275A>G (p. H92R) (novel) /c.319G>A (p. A107T) (reported), which developed when the patient was just 8 months old but was diagnosed at 10 years of age. Even after the neonatal period, vitamin B6-dependent epilepsy should be considered as a differential diagnosis of refractory epilepsy, with genetic analysis being useful for its diagnosis and treatment.

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来源期刊

European journal of medical genetics 医学-遗传学

CiteScore

4.10

自引率

0.00%

发文量

193

审稿时长

66 days

期刊介绍： The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models. Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as : • Dysmorphology and syndrome delineation • Molecular genetics and molecular cytogenetics of inherited disorders • Clinical applications of genomics and nextgen sequencing technologies • Syndromal cancer genetics • Behavioral genetics • Community genetics • Fetal pathology and prenatal diagnosis • Genetic counseling.