Results 101 to 110 of about 2,887,246 (174)

Diagnostic pitfalls in vitamin B6‐dependent epilepsy caused by mutations in the PLPBP gene

JIMD Reports, 2019
Vitamin B6‐responsive epilepsies are a group of genetic disorders including ALDH7A1 deficiency, PNPO deficiency, and others, usually causing neonatal onset seizures resistant to treatment with common antiepileptic drugs.
Kristian Vestergaard Jensen, Maria Frid, Tommy Stödberg, Michela Barbaro, Anna Wedell, Mette Christensen, Mads Bak, Jakob Ek, Camilla Gøbel Madsen, Niklas Darin, Sabine Grønborg   +10 more
doaj   +1 more source

Pearls & Oy-sters: Delayed Response to Pyridoxine in Pyridoxine-Dependent Epilepsy. [PDF]

Neurology, 2023
Fortin O, Christoffel K, Kousa Y, Miller I, Leon E, Donoho K, Mulkey SB, Anwar T.   +7 more
europepmc   +1 more source

Generation of hiPSC lines from four pyridoxine-dependent epilepsy (PDE) patients carrying the variant c.1279G>C in ALDH7A1 in homozygosis

Stem Cell Research
ALDH7A1 encodes for the enzyme catalyzing the third step of the lysine degradation pathway. Biallelic pathogenic variants in ALDH7A1 are associated with pyridoxine dependent epilepsy (PDE), of which the c.1279G>C (p.Glu427Gln) variant is the most ...
Imke M.E. Schuurmans, Clara D.M. van Karnebeek, Anita D.M. Hoogendoorn, Nael Nadif Kasri, Alejandro Garanto   +4 more
doaj   +1 more source

A Patient with Pyridoxine-Dependent Epilepsy Who Was Treated with Triple Therapy [PDF]

Annals of Child Neurology, 2022
Minsun Ryu, Ji-Hoon Na, Hyunjoo Lee, Young-Mock Lee   +3 more
doaj   +1 more source

Early Pyridoxine Administration to Avoid Late Diagnosis of Pyridoxine-Dependent Epilepsy; Comment on the ILAE Guidelines Proposal on the Treatment of Seizures in the Neonate

The ILAE Task Force on Neonatal Seizures has recently published consensus-based guidelines and recommendations for the treatment of neonatal seizures (https://www.ilae.org/guidelines/guidelines-and-reports/treatment-of-seizures-in-the-neonateguidelines ...
Falsaperla, Raffaele, Scalia, Bruna
core   +1 more source

Genetic analysis of human absence epilepsy [PDF]

, 2010
Idiopathic Mendelian epilepsies have been typically identified as channelopathies. Evidence suggests that mutations in genes encoding GABAA receptors, GABAB receptors or voltage-dependent calcium channels (VDCCs) may underlie childhood absence epilepsy ...
Robinson, R.A.
core  

Self-concept and gender effects in Korean adolescents with epilepsy

, 2016
PURPOSE: We aimed to determine whether adolescents with epilepsy (AWE) have a compromised self-concept, whether a lower self-concept is related to mental health, and whether there are sex differences in self-concept in AWE.
엄소용
core   +1 more source

Pyridoxine-Dependent Epilepsy: A Treatable Epilepsy Syndrome Presenting with Dystonia and Congenital Cataracts with a Novel Mutation. [PDF]

Mov Disord Clin Pract, 2023
Saini L, Krishna D, Gunasekaran PK, Tiwari S, Kumar P.   +4 more
europepmc   +1 more source

Health Related Quality of Life in Adult Patients with Epilepsy Compared with a General Reference Population in Taiwan

, 2009
To compare the health-related quality of life (HRQL) for patients with epilepsy and health subjects, we collected the clinical and demographic data and information on health states by using the Taiwan version of World Health Organization quality of life (
LIOU, HORNG-HUEI;CHEN, RONG-CHI;CHEN, CHIH-CHUAN;CHIU, MING-JANG;CHANG, YU-YIN;WANG, JUNG-DER, 劉宏輝;陳榮基;陳至全;邱銘章;張郁瑩;王榮德   +1 more
core   +1 more source

Pyridoxine-dependent epilepsy [PDF]

, 2020
openaire   +1 more source