Results 151 to 160 of about 2,887,246 (174)

Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine‐dependent epilepsy

American Journal of Medical Genetics Part A, 2012
AbstractA cause of antiepileptic medication resistant seizures presenting in neonates and young infants is pyridoxine‐dependent epilepsy (PDE), an organic aciduria, which is due to recessive mutations in the ALDH7A1 gene, resulting in deficiency of antiquitin.
Heather C, Mefford, Joseph, Cook, Sidney M, Gospe   +2 more
openaire   +2 more sources

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: A novel mutation in a Tunisian child

Archives de Pédiatrie, 2017
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive metabolic disease characterized by seizures in neonates or infants, which is unresponsive to antiepileptic drugs but controlled by pyridoxine. Without prompt treatment, continued seizures and severe encephalopathy result. Mutations in the ALDH7A1 gene encoding α-amino-adipic semialdehyde
T, Ben Younes, I, Kraoua, H, Benrhouma, F, Nasrallah, N, Ben Achour, H, Klaa, A, Hassen-Rouissi, C, Drissi, J-F, Benoist, I, Ben Youssef-Turki   +9 more
openaire   +2 more sources

[Pyridoxine-dependent epilepsy in an infant].

Nederlands tijdschrift voor geneeskunde, 1995
A newborn girl with seizures was, after repeated conventional anticonvulsive treatment, cured by pyridoxine administration. Pyridoxine-dependent seizures are an uncommon disease with autosomal-recessive heredity and a variable clinical picture. The prognosis may be favourable when diagnosis is made early.
W M, van Waarde, R F, Tummers, A N, Bosschaart, G, Hageman   +3 more
openaire   +1 more source

Adolescent diagnosis of pyridoxine-dependent epilepsy

BMJ Case Reports
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive metabolic epilepsy classically presenting with refractory neonatal seizures that respond to pharmacological doses of pyridoxine (vitamin B6). Although traditionally regarded as a neonatal disorder, later presentations are increasingly recognised.
Ahmed Aaid Osman, Lalani Heva, Ajit Kamal   +2 more
openaire   +1 more source

Electroencephalographic changes in pyridoxine‐dependant epilepsy: new observations

Epileptic Disorders, 2009
ABSTRACT Objective Pyridoxine‐dependent epilepsy (PDE) is a rare disease, of which the EEG manifestations are only partially characterised. We report our observations of EEG recordings in four patients with PDE. Materials and methods
Georges, Naasan, Mohamad, Yabroudi, Amal, Rahi, Mohamad A, Mikati   +3 more
openaire   +2 more sources

Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures

Brain Sciences, 2022
Justyna Paprocka, Renata Pająk, Konrad Kaminiów   +2 more
exaly  

Pyridoxine-Dependent Epilepsy With Carnitine Deficiency

[Abtract Not Available]
Dundar, N. Olgac, Cavusoglu, D., Arican, P., Gencpinar, P.   +3 more
openaire   +1 more source

Pyridoxine-dependent epilepsy: case report

Neuropediatrics, 2013
H Schober, K Konzett, J Lütschg, E Paschke, B Plecko, B Simma   +5 more
openaire   +1 more source

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

Brain and Development, 2020
Ching-Shiang Chi
exaly