Results 51 to 60 of about 2,887,246 (174)

Management of Infantile Epileptic Spasms Syndrome: A survey of US pediatric hospitals. [PDF]

Epilepsia Open
Abstract Objective To evaluate the management practices of Infantile Epileptic Spasms Syndrome (IESS) across tertiary pediatric hospitals in the United States using a survey‐based approach. Methods A 21‐question survey focused on management setting, work‐up, follow‐up and treatment was created and sent to 45 member institutions of the Pediatric ...
Katyayan A, Briscoe C, Bhalla S, Bhatia S, Erdemir G, Harini C, Hunter SE, Mytinger JR, Nie D, Pasupuleti A, Patel SH, Samanta D, Karamian AS, Singh A, Sirsi D, Takacs DS, Hussain SA.   +16 more
europepmc   +2 more sources

The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study [PDF]

, 2023
Background Pyridoxine-dependent epilepsy (PDE) is a rare seizure disorder usually presenting with neonatal seizures. Most cases are caused by biallelic pathogenic ALDH7A1variants.
Gerstner, Thorsten Alfons, Kristensen, Erle, Jamali, Ahmed, Sikric, Alma, Kupliauskiene, Guste, Bindoff, Laurence Albert, Hassel, Bjørnar, Berland, Siren, Tangeraas, Trine, Sejersted, Yngve, Myren-Svelstad, Sverre, Arntsen, Vibeke, Brodtkorb, Eylert August   +12 more
core   +1 more source

ALDH7A1 Gene and Its Related Pyridoxine-Dependent Epilepsy

, 2021
Despite being classically reported as caused by mutations in solute carriers genes (SLC2A1), it has been recently shown that also mutations in ALDH7A1 can cause pyridoxine-dependent epilepsy (PDE). ALDH7A1 is a gene encoding for the antiquitin, an enzyme
Romano, Catia, Falsaperla, Raffaele, Garozzo, Maria Teresa, Lombardo, Giulia, La Mendola, Flavia Maria Consuelo, Timpanaro Tiziana, Caruso, Daniela, Presti, Santiago, Praticò, Elena R., Zanghì, Antonio   +9 more
core   +1 more source

Pyridoxine-dependent early onset seizures associated with rare gene mutations: a case series

Journal of the Pakistan Medical Association
Pyridoxine dependent epilepsy (PDE) is a rare autosomal recessive disorder. Several genes involved in Pyridoxine (B6) metabolism have been implicated in the pathogenesis of PDE, two such genes are Aldehyde Dehydrogenase 7 Family Member A1 (ALDH7A1) and ...
Ali Hyder Nazeer, Durray Shahwar Abid Khan, Prem Chand   +2 more
doaj   +1 more source

Generation of an induced pluripotent stem cell line carrying biallelic deletions (SCTCi019-B) in ALDH7A1 using CRISPR/Cas9

Stem Cell Research, 2023
Biallelic pathogenic variants in ALDH7A1 are associated with pyridoxine-dependent epilepsy (PDE). ALDH7A1 encodes for the third enzyme of the lysine catabolism pathway.
Imke M.E. Schuurmans, Ka M. Wu, Clara D.M. van Karnebeek, Nael Nadif Kasri, Alejandro Garanto   +4 more
doaj   +1 more source

Neonatal Hypoglycemia, Lactic Acidosis, and Pyridoxine-Dependent Epilepsy

Pediatric Neurology Briefs, 2012
Researchers at the University of Toronto, Canada report the case of a 13-month-old girl with neonatal hypoglycemia, lactic acidosis, and bilateral symmetrical temporal lobe hemorrhages and thalamic changes on cranial MRI.
J Gordon Millichap
doaj   +1 more source

First patient in Serbia with biochemically and genetically diagnosed pyridoxine-dependent epilepsy [PDF]

Vojnosanitetski Pregled, 2017
Introduction. Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive inborn error of metabolism present with early-onset seizures resistant to common anticonvulsants.
Ješić Miloš M., Ješić Maja D., Buljugić Svetlana, Živanović Aleksandra   +3 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

Pyridoxine dependent epilepsies: new therapeutical point of view [PDF]

Italian Journal of Pediatrics, 2017
Pyridoxine dependent epilepsies (PDEs) are rare autosomal recessive disorders with onset in neonatal period. Seizures are typically not responsive to conventional antiepileptic drugs, but they cease after parental pyridoxine administration. Atypical forms are characterized partly response to pyridoxine and a late onset of symptoms (up to the age of ...
Falsaperla R, Corsello G
openaire   +5 more sources