Results 61 to 70 of about 3,724 (217)

Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review

Children, 2023
Background: Vitamin B6-dependent epilepsies include treatable diseases responding to pyridoxine or pyridoxal-5Iphosphate (ALDH7A1 deficiency, PNPO deficiency, PLP binding protein deficiency, hyperprolinemia type II and hypophosphatasia and ...
Mario Mastrangelo, Valentina Gasparri, Katerina Bernardi, Silvia Foglietta, Georgia Ramantani, Francesco Pisani   +5 more
doaj   +1 more source

Analysis of the Phenotypic Variability as Well as Impact of Early Diagnosis and Treatment in Six Affected Families With ALDH7A1 Deficiency

Frontiers in Genetics, 2021
ObjectiveTo describe the clinical characteristics of 12 patients from six families with pyridoxine-dependent epilepsy (PDE) carrying ALDH7A1 mutations, and analyze the impact of early diagnosis and treatment, as well as possible genotype–phenotype ...
Xianru Jiao, Pan Gong, Ye Wu, Yuehua Zhang, Zhixian Yang   +4 more
doaj   +1 more source

Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders [PDF]

, 2004
Background Cerebral palsy (CP) is an heterogeneous group of neurological disorders of movement and/or posture, with an estimated incidence of 1 in 1000 live births.
A Lernmark, Alex F Markham, B Hagberg, BG Condie, C Geoffrey Woods, CL Fawer, Clare N Lynex, CM Wiles, David T Bonthon, DF Bu, DF Bu, DJ Stone, DL Martin, DL Martin, DP McHale, DP McHale, E Maestrini, Eamonn R Maher, F Sandbrink, G Gaffney, GE Homanics, H Asada, H Mitoma, HM Meinck, I Hughes, Ian M Carr, J Kim, J Volpe, Jack P Leek, JO Forfar, JS Lappalainen, K Burk, K Dinkel, KCK Kuban, KH Gustavson, LM Dubowitz, LM Levy, M Baraitser, M Solimena, M Solimena, MC Dalakas, MG Erlander, MH Butler, N Laprade, N Paneth, POD Pharoah, PS Eicher, PT Bosma, Rajgopal Achuthan, RW Bond, S Bundey, S Chattopadhyay, S Kono, S Kure, S Mitchell, SD Chessler, Simon Mitchell, V Cormier-Daire   +57 more
core   +2 more sources

Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum [PDF]

Pediatric Neurology, 2016
Pyridoxine-dependent epilepsy is a rare autosomal recessive epileptic encephalopathy caused by antiquitin (ALDH7A1) deficiency. In spite of adequate seizure control, 75% of patients suffer intellectual developmental disability. Antiquitin deficiency affects lysine catabolism resulting in accumulation of α-aminoadipic semialdehyde/pyrroline 6 ...
Clara D M, van Karnebeek, Sylvia A, Tiebout, Jikkemien, Niermeijer, Bwee Tien, Poll-The, Aisha, Ghani, Curtis R, Coughlin, Johan L K, Van Hove, Jost Wigand, Richter, Hans Juergen, Christen, Renata, Gallagher, Hans, Hartmann, Sylvia, Stockler-Ipsiroglu   +11 more
openaire   +2 more sources

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin B6-Dependent Epilepsy [PDF]

, 2016
Pyridoxal 5'-phosphate (PLP), the active form of vitamin B6, functions as a cofactor in humans for more than 140 enzymes, many of which are involved in neurotransmitter synthesis and degradation.
Champion, Mike, Chong, W.K., Clayton, Peter T., Darin, Niklas, de Crécy-Lagard, Valérie, El Yacoubi, Basma, Footitt, Emma, Heales, Simon, Husain, Ralf A., Lascelles, Karine, Mills, Philippa B, Pope, Simon, Prunetti, Laurence, Prunty, Helen, Reid, Emma, Samuelsson, Lena, Veggiotti, Pierangelo, Wassmer, Evangeline, Wilson, Louise C., Wilson, Matthew   +19 more
core   +1 more source

Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO) [PDF]

, 2017
PNPO deficiency is responsible of severe neonatal encephalopathy, responsive to pyridoxal-5’-phosphate (PLP) or pyridoxine. Recent studies widened the phenotype of this condition and detected new genetic variants on PNPO gene, whose pathogenetic role and
Carducci, Carla, Contestabile, Roberto, Di Salvo, Martino L., Guerrini, Renzo, Leuzzi, Vincenzo, Mastrangelo, Mario, Mei, Davide, Montomoli, Martino, Nogués, Isabel, Paiardini, Alessandro, Tolve, Manuela, Tramonti, Angela   +11 more
core   +2 more sources

KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review

Frontiers in Neurology, 2022
Potassium Voltage-Gated Channel Subfamily Q Member 2 (KCNQ2) gene has been initially associated with “Benign familial neonatal epilepsy” (BFNE). Amounting evidence arising by next-generation sequencing techniques have led to the definition of new ...
Greta Amore, Ambra Butera, Giulia Spoto, Giulia Valentini, Maria Concetta Saia, Vincenzo Salpietro, Vincenzo Salpietro, Vincenzo Salpietro, Francesco Calì, Gabriella Di Rosa, Antonio Gennaro Nicotera   +10 more
doaj   +1 more source

"Electro-clinical Syndromes" with onset in Paediatric Age. the highlights of the clinical-EEG, genetic and therapeutic advances [PDF]

, 2011
The genetic causes underlying epilepsy remain largely unknown, and the impact of available genetic data on the nosology of epilepsy is still limited.
Alberto Verrotti, CASTALDO, Rosa, FERRETTI, ALESSANDRO, Filomena Ianniello, Francesco Chiarelli, PAOLINO, MARIA CHIARA, PARISI, Pasquale, VILLA, MARIA PIA   +7 more
core   +2 more sources

Infantile spasms (West syndrome): update and resources for pediatricians and providers to share with parents [PDF]

, 2012
Background Infantile spasms (IS; West syndrome) is a severe form of encephalopathy that typically affects infants younger than 2 years old. Pediatricians, pediatric neurologists, and other pediatric health care providers are all potentially key early ...
Gibson, Patricia A., Hardin, Maria, Luther Rosbeck, Kari, O’Dell, Christine, Pellock, John M., Wheless, James W., Whittemore, Vicky   +6 more
core   +2 more sources

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