Results 31 to 40 of about 3,050,532 (174)

A case for newborn screening for pyridoxine-dependent epilepsy. [PDF]

Cold Spring Harb Mol Case Stud, 2022
Pyridoxine dependent epilepsy due to mutations in ALDH7A1 (PDH-ALDH7A1) is a highly treatable developmental and epileptic encephalopathy. Pharmacologic doses of pyridoxine are associated with dramatic clinical seizure improvement and most patient achieve adequate seizure control with pyridoxine alone.
Coughlin CR, Tseng LA, van Karnebeek CDM.   +2 more
europepmc   +5 more sources

Late diagnosis of pyridoxine-dependent epilepsy in two adolescent siblings [PDF]

Annals of Indian Academy of Neurology, 2021
Sedat Işıkay
doaj   +2 more sources

Phenotypic Variability of Pyridoxine-Dependent Epilepsy

, 2019
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder characterized by seizures in neonates or infants, which is unresponsive to antiepileptic drugs but controlled by pyridoxine.
ERÇAL, MURAT DERYA, USLUER, ESRA, ÜLGENALP, AYFER   +2 more
openaire   +2 more sources

Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy. [PDF]

Neurology, 2022
BACKGROUND AND OBJECTIVES: Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is a developmental epileptic encephalopathy characterized by seizure improvement after pyridoxine supplementation. Adjunct lysine reduction therapies (LRTs) reduce the accumulation of
Coughlin CR, Tseng LA, Bok LA, Hartmann H, Footitt E, Striano P, Tabarki BM, Lunsing RJ, Stockler-Ipsiroglu S, Gordon S, Van Hove JLK, Abdenur JE, Boyer M, Longo N, Andrews A, Janssen MCH, van Wegberg A, Prasad C, Prasad AN, Lamb MM, Wijburg FA, Gospe SM, van Karnebeek C, International PDE Consortium.   +23 more
europepmc   +2 more sources

Treatable cause of refractory seizures in an infant with a novel mutation

Journal of Pediatric Neurosciences, 2021
Pyridoxine-dependent epilepsy is a treatable cause of epilepsy, which is very well known. It is most commonly caused by mutations in ALDH7A1 and PNPO genes. A 5-month-old infant presented with refractory seizures.
Ruchi R Mittal, Ranjith Kumar Manokaran, Saji James   +2 more
doaj   +1 more source

Long-term course of early onset developmental and epileptic encephalopathy associated with 2q24.3 microduplication

Epilepsy & Behavior Reports, 2022
Copy number variations (CNVs) have been related to developmental and epileptic encephalopathy (DEE). The 2q24.3 region includes a cluster of genes for voltage-gated sodium channels (SCN) and CNVs in this region cause DEE. However, the long-term course of
Takuya Masuda, Hitoshi Osaka, Naomi Tsuchida, Satoko Miyatake, Kou Nishimura, Toshiki Takenouchi, Takao Takahashi, Naomichi Matsumoto, Takanori Yamagata   +8 more
doaj   +1 more source

Feasibility of newborn screening for pyridoxine-dependent epilepsy. [PDF]

Mol Genet Metab
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is a developmental epileptic encephalopathy historically characterized by seizures that are resistant to antiseizure medications. Treatment with pyridoxine and lysine reduction therapies are associated with seizure control and improved developmental outcomes. In rare circumstances, patients have died prior to
Pauly K, Woontner M, Abdenur JE, Chaudhari BP, Gosselin R, Kripps KA, Thomas JA, Wempe MF, Gospe SM, Coughlin CR.   +9 more
europepmc   +3 more sources

Callosal alterations in pyridoxine‐dependent epilepsy [PDF]

Developmental Medicine & Child Neurology, 2014
AimWhile there have been isolated reports of callosal morphology differences in pyridoxine‐dependent epilepsy (PDE), a rare autosomal disorder caused by ALDH7A1 gene mutations, no study has systematically evaluated callosal features in a large sample of patients.
Friedman, S.D., Ishak, G.E., Poliachik, S.L., Poliakov, A.V., Otto, R.K., Shaw, D.W., Willemsen, M.A.A.P., Willemsen, M.A.A.P., Bok, L.A., Gospe, S.M., Jr.   +9 more
openaire   +3 more sources

The Genotypic Spectrum of ALDH7A1 Mutations Resulting in Pyridoxine Dependent Epilepsy: A Common Epileptic Encephalopathy [PDF]

Journal of Inherited Metabolic Disease, 2019
Michael A Swanson, Sidney M Gospe, Curtis R Coughlin Ii   +2 more
exaly   +2 more sources

Epilepsia por dependência de piridoxina: um relato de caso

Residência Pediátrica, 2023
Pyridoxine-dependent epilepsy (EDP) is an autosomal recessive disease clinically represented by recurrent seizures. The diagnosis is made by clinical observation, and may be assisted by electroencephalography (EEG) and biochemical and genetic tests.
Larissa Magalhães de Paiva, Luigi Neves Reis, Rinara Grossi de Andrade, Shaira Salvadora Brito, Giulia Antunes Chieppe, Isabela Bernardino Freire   +5 more
doaj   +1 more source