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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Oct 8, 2024. (Total: 232338Documents)
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Records 1 - 11 (of 11 Records)

Query Trace: Seizures and ALDH7A1[original query]
First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2015 Aug .
Tincheva Savina, Todorov Tihomir, Todorova Albena, Georgieva Ralica, Stamatov Dimitar, Yordanova Iglika, Kadiyska Tanya, Georgieva Bilyana, Bojidarova Maria, Tacheva Genoveva, Litvinenko Ivan, Mitev Van
A cohort study of pyridoxine-dependent epilepsy and high prevalence of splice site IVS11+1G>A mutation in Chinese patients.
Epilepsy research 2015 Oct 118 1-4.
Xue Jiao, Qian Ping, Li Hui, Wu Ye, Liu Xiaoyan, Yang Zhixi
[Clinical and genetic characteristics and detection of urinary pipecolic acid in pyridoxine dependent epilepsy].
Zhonghua er ke za zhi = Chinese journal of pediatrics 2016 Aug 54 (8): 592-6.
Xue J, Yang Z X, Li H, Qian P, Wu Y, Jiang Y W, Liu X
Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy.
Seizure 2018 6 59 132-140.
Kothur Kavitha, Holman Katherine, Farnsworth Elizabeth, Ho Gladys, Lorentzos Michelle, Troedson Christopher, Gupta Sachin, Webster Richard, Procopis Peter G, Menezes Manoj P, Antony Jayne, Ardern-Holmes Simone, Dale Russell C, Christodoulou John, Gill Deepak, Bennetts Bru
Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2018 4 22 (4): 662-666.
de Rooy R L P, Halbertsma F J, Struijs E A, van Spronsen F J, Lunsing R J, Schippers H M, van Hasselt P M, Plecko B, Wohlrab G, Whalen S, Benoist J F, Valence S, Mills P B, Bok L
Clinical and genetic features in pyridoxine-dependent epilepsy: a Chinese cohort study.
Developmental medicine and child neurology 2019 11 62 (3): 315-321.
Jiao Xianru, Xue Jiao, Gong Pan, Wu Ye, Zhang Yuehua, Jiang Yuwu, Yang Zhixi
Analysis of the Phenotypic Variability as Well as Impact of Early Diagnosis and Treatment in Six Affected Families With ALDH7A1 Deficiency.
Frontiers in genetics 2021 4 12 644447.
Jiao Xianru, Gong Pan, Wu Ye, Zhang Yuehua, Yang Zhixi
[Genotype and phenotype analysis of neonates with neonatal encephalopathy complicated with perinatal hypoxic event].
Zhonghua er ke za zhi = Chinese journal of pediatrics 2021 3 59 (4): 280-285.
Xiao T T, Yang L, Wu B B, Peng X M, Wang H J, Cheng G Q, Wang L S, Cao Y, Hu L Y, Zhou W
Analysis of clinical phenotypic and genotypic spectra in 36 children patients with Epilepsy of Infancy with Migrating Focal Seizures.
Scientific reports 2022 Jun 12 (1): 10187.
Yang Haiyan, Yang Xiaofan, Cai Fang, Gan Siyi, Yang Sai, Wu Liw
A Rare Presentation Characterized by Epileptic Spasms in ALDH7A1, Pyridox(am)ine-5'-Phosphate Oxidase, and PLPBP Deficiency.
Frontiers in genetics 2022 5 13 804461.
Jiao Xianru, Gong Pan, Niu Yue, Zhang Yuehua, Yang Zhixi
Genotype and phenotype features and prognostic factors of neonatal-onset pyridoxine-dependent epilepsy: A systematic review.
Epilepsy research 2024 4 202 107363.
Chuchu Fang, Lin Yang, Feifan Xiao, Kai Yan, Wenhao Zh
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