Results 51 to 60 of about 3,547 (200)

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

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

The case of pyridoxine dependent epilepsy misdiagnosed as non-ketotic hyperglycinemia

The Turkish Journal of Pediatrics, 2019
Pyridoxine-dependent epilepsy (PDE) is a rare but an important condition, since early diagnosis and treatment result in normal or near normal psychomotor development. It is caused by mutations in the Antiquitin (ALDH7A1) gene.
Hande Gazeteci-Tekin, Melis Demir, Gül Aktan, Hasan Tekgül, Sarenur Gökben   +4 more
doaj   +1 more source

Incidence and phenotypes of childhood-onset genetic epilepsies:a prospective population-based national cohort [PDF]

, 2019
Epilepsy is common in early childhood. In this age group it is associated with high rates of therapy-resistance, and with cognitive, motor, and behavioural comorbidity. A large number of genes, with wide ranging functions, are implicated in its aetiology,
Abdelnour, Ailsa McLellan, Alan Webb, Alice Jollands, Anagnostou, Anderson, Andreas Brunklaus, Angela Vincent, Appenzeller, Arsov, Barker, Baxter, Bayat, Bearden, Berg, Berg, Berg, Berkovic, Bethan Lang, Biervert, Boerma, Brunklaus, Brunklaus, Calum A Morrison, Capovilla, Caraballo, Ceulemans, Chiron, Christine Findlay, Coman, Coppola, Daniela T Pilz, de Lange, Devinsky, Devinsky, Devinsky, Devinsky, Di Giorgis, Ebrahimi-Fakhari, Elma Stephen, Eltze, Escayg, Fiest, French, Fukuoka, Gaily, Guerrini, Harkin, Hauser, Helbig, Heyne, Higurashi, Howell, Huang, Hully, Ishaq Abu-Arafeh, Jamie Andrew, Jamie Cruden, Jane MacDonnell, Jay Shetty, Jean McKnight, Johannesen, Joseph D Symonds, Kass, Kato, Kirsty Stewart, Krabbenborg, Kwan, Larsen, Lek, Lemke, Lesley Nairn, Liam Dorris, Lim, Lindy, Lotte, Louise A Diver, Margaret Wilson, Martin Kirkpatrick, Mary Callaghan, Mary O‘Regan, Meghan M Slean, Millichap, Milligan, Mullen, Mullen, Myers, Myers, Nellist, Ngugi, Olson, Palmer, Peng, Philip Brink, Pisano, Pong, Rosemary Grattan, Sameer M Zuberi, Sarah Gardiner, Sawyer, Scheffer, Shelagh Joss, Singh, Stewart MacLeod, Striano, Trump, Weckhuysen, Wilson, Wirrell, Wolff, Wu, Wynn, Zeng   +112 more
core   +4 more sources

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

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. [PDF]

, 2017
Approximately one in every 200 mammalian proteins is anchored to the cell membrane through a glycosylphosphatidylinositol (GPI) anchor. These proteins play important roles notably in neurological development and function. To date, more than 20 genes have
Ajeawung, NF, Bateman, A, Bennett, CP, Berry-Kravis, E, Campeau, PM, Carroll, CJ, Chai, G, Diggle, C, Ehresmann, S, Fairbrother, L, Gleeson, JG, Hattingh, L, Ignatius, E, Isohanni, P, Johnson, CA, Kinoshita, T, Le Deist, F, Logan, CV, Lönnqvist, T, Murakami, Y, Nguyen, TTM, Parker, MJ, Parry, DA, Perry, MS, Reimschisel, T, Rosenfeld, JA, Rousseau, J, Sheridan, E, St-Denis, A, Tardif, J, Xia, F, Zaki, MS   +31 more
core   +1 more source

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency) [PDF]

, 2017
Pyridoxine-dependent epilepsy was recently shown to be due to mutations in the ALDH7A1 gene, which encodes antiquitin, an enzyme that catalyses the nicotinamide adenine dinucleotide-dependent dehydrogenation of l-α-aminoadipic semialdehyde/l-Δ1 ...
Aylett, Sarah, Baxter, Peter, Christensen, Ernst, Clayton, Peter T., Craigen, William J., De Lonlay, Pascale, Dulac, Olivier, Feillet, François, Footitt, Emma J., Hemingway, Cheryl, Hughes, M. Imelda, Jakobs, Cornelis, Marlow, Neil, Mills, Kevin A., Mills, Philippa B., Nabbout, Rima, Pike, Mike G., Rennie, Janet, Schmitt, Bernhard, Struys, Eduard A., Tuschl, Karin, Varadkar, Sophia, Zuberi, Sameer M.   +22 more
core  

Dietary modulation of cortical excitation and inhibition [PDF]

, 2017
The balance of excitatory and inhibitory neurotransmitters in the brain affects both neural responses and behaviour in humans and animals. Here we investigated whether dietary intervention aimed at increasing levels of the inhibitory neurotransmitter ...
Alex R Wade, Anika K Smith, Daniel H Baker, Ikeda M, Kirsty EH Penkman, Nemeroff CB   +5 more
core   +1 more source

Self‐limited neonatal epilepsy with 2q24.3 duplications: Case series and literature review

Epileptic Disorders, EarlyView.
Abstract Objective To clarify the phenotypic spectrum associated with duplications involving the 2q24.3 region, which includes a cluster of genes encoding sodium channel subunits (SCN1A, SCN2A, SCN3A, SCN7A, and SCN9A). Methods We reviewed our research database for patients with epilepsy and 2q24.3 duplication and performed thorough phenotyping.
Saba Al Rawahi, Kenneth A. Myers
wiley   +1 more source