Results 141 to 150 of about 1,820 (150)

Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1

Molecular Genetics and Metabolism, 2012
We report two siblings with atypical pyridoxine-dependant epilepsy, modest elevation of biomarkers, in which the open reading frame and the splice sites of ALDH7A1 did not show any mutations. Subsequent genetic analysis revealed a deep homozygous intronic mutation in ALDH7A1 resulting in two types of transcripts: the major transcript containing a ...
Milh, M., Pop, A., Kanhai, W., Villeneuve, N., Cano, A., Struijs, E.A., Salomons, G.S., Chabrol, B., Jakobs, C.A.J.M.   +8 more
openaire   +3 more sources

Pyridoxine-dependent epilepsy owing to antiquitin deficiency — mutation in theALDH7A1gene

Paediatrics and International Child Health, 2013
Pyridoxine-dependent epilepsy (PDE) is an inborn error of metabolism resulting from antiquitin deficiency. There is marked elevation of α-amino adipic semi-aldehyde (αAASA), piperidine-6-carboxylate (P6C) and pipecolic acid. The diagnosis can be confirmed by identifying the mutation in the ALDH7A1 gene in chromosome 5q3l.
Jagadeesh, S., Suresh, B., Murugan, V., Suresh, S., Salomons, G.S., Struys, E.A., Jacobs, C.   +6 more
openaire   +4 more sources

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

Brain and Development, 2020
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.Demographic data, case histories, clinical seizure patterns, EEG features, neuroimaging findings, ALDH7A1 gene mutations, treatments, and neurodevelopmental outcomes of the four ...
Hsiu-Fen, Lee, Ching-Shiang, Chi, Chi-Ren, Tsai   +2 more
openaire   +2 more sources

ALDH7A1 protects against ferroptosis by generating membrane NADH and regulating FSP1

Cell
Ferroptosis is a form of cell death due to iron-induced lipid peroxidation. Ferroptosis suppressor protein 1 (FSP1) protects against this death by generating antioxidants, which requires nicotinamide adenine dinucleotide, reduced form (NADH) as a cofactor.
Yang, Jia-Shu, Morris, Andrew J., Kamizaki, Koki, Chen, Jianzhong, Stark, Jillian, Oldham, William M., Nakamura, Toshitaka, Mishima, Eikan, Loscalzo, Joseph, Minami, Yasuhiro, Conrad, Marcus, Henry, Whitney S., Hsu, Victor W.   +12 more
openaire   +2 more sources

Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis

Molecular Genetics and Metabolism, 2007
Pyridoxine dependent seizure (PDS) is a disorder of neonates or infants with autosomal recessive inheritance characterized by seizures, which responds to pharmacological dose of pyridoxine. Recently, mutations have been identified in the ALDH7A1 gene in Caucasian families with PDS.
Junko, Kanno, Shigeo, Kure, Ayumi, Narisawa, Fumiaki, Kamada, Masaru, Takayanagi, Katsuya, Yamamoto, Hisao, Hoshino, Tomohide, Goto, Takao, Takahashi, Kazuhiro, Haginoya, Shigeru, Tsuchiya, Fritz A M, Baumeister, Yuki, Hasegawa, Yoko, Aoki, Seiji, Yamaguchi, Yoichi, Matsubara   +15 more
openaire   +2 more sources

First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene

Neurological Sciences, 2015
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder characterized by intractable seizures in neonates and infants. The seizures cannot be controlled with antiepileptic medications but respond both clinically and electrographically to large daily supplements of pyridoxine (vitamin B6).
Savina, Tincheva, Tihomir, Todorov, Albena, Todorova, Ralica, Georgieva, Dimitar, Stamatov, Iglika, Yordanova, Tanya, Kadiyska, Bilyana, Georgieva, Maria, Bojidarova, Genoveva, Tacheva, Ivan, Litvinenko, Vanyo, Mitev   +11 more
openaire   +2 more sources

Long-term follow-up in two siblings with pyridoxine-dependent seizures associated with a novel ALDH7A1 mutation

European Journal of Paediatric Neurology, 2011
Pyridoxine-dependent seizures (PDS) is a rare disorder characterized by seizures resistant to anticonvulsants but controlled by daily pharmacologic doses of pyridoxine. Mutations in the antiquitin (ALDH7A1) gene have recently reported to cause PDS in most of patients.
N. S. Yeghiazaryan, STRIANO, PASQUALE, L. Spaccini, PEZZELLA, MARIANNA, D. Cassandrini, F. Zara, M. Mastrangelo   +6 more
openaire   +3 more sources

Pyridoxine-dependent epilepsy in Tunisia is caused by a founder missense mutation of the ALDH7A1 gene

Gene, 2013
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder characterized by seizures and therapeutic response to pharmacological dose of pyridoxine. Mutations in the ALDH7A1 gene, encoding α-aminoadipic semialdehyde (α-AASA) dehydrogenase (antiquitin), have been reported to cause PDE in most patients. In this study molecular analysis of
Abdelaziz, Tlili, Nadia, Hamida Hentati, Rim, Chaabane, Abdellatif, Gargouri, Faiza, Fakhfakh   +4 more
openaire   +2 more sources

Normal plasma pipecolic acid level in pyridoxine dependent epilepsy due to ALDH7A1 mutations

Molecular Genetics and Metabolism, 2013
Saadet Mercimek-Mahmutoglu, Elizabeth J. Donner, Komudi Siriwardena   +2 more
openaire   +1 more source

ALDH7A1 gen mutasyonuna bağlı pridoksin bağımlı epilepsi: Altı olguluk tek merkez deneyimi.

2019
TEKİN ORGUN, LEMAN, EROL, İLKNUR
openaire   +1 more source