Results 41 to 50 of about 3,547 (200)

Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome? [PDF]

European Journal of Paediatric Neurology, 2018
In pyridoxine dependent epilepsy (PDE), patients usually present with neonatal seizures. A small subgroup is characterized by late-onset beyond 2 months of age. We aim to analyze the observation of relatively good cognitive outcome in this subgroup of late-onset PDE patients.We retrospectively analyzed data from four metabolically and genetically ...
de Rooy, RLP, Halbertsma, FJ, Struijs, EA, van Spronsen, FJ, Lunsing, RJ, Schippers, HM, van Hasselt, PM, Plecko, B, Wohlrab, G, Whalen, S, Benoist, JF, Valence, S, Mills, PB, Bok, LA   +13 more
openaire   +6 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

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

"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.
PARISI, Pasquale, Alberto Verrotti, PAOLINO, MARIA CHIARA, CASTALDO, Rosa, Filomena Ianniello, FERRETTI, ALESSANDRO, Francesco Chiarelli, VILLA, MARIA PIA   +7 more
core   +1 more source

Drugs that lower the seizure threshold [PDF]

, 2016
Drugs with potential to lower the seizure threshold are numerous and diverse. Whether they contribute to clinically overt seizures depends on the dosage in which they are taken, the time-course of their effects and the susceptibility of the patient ...
Alper, Asenjo Lobos, Benish, Berg, Boison, Cannon, Cardamone, Citraro, Coupland, DeToledo, Foote, Fujimoto, Fukuda, Gayatri, Gholami, Green, Grover, Hill, Ikonomidou-Turski, Jobe, Johannessen Landmark, Kemp, Kumlien, Lauretti, Lertxundi, Lundqvist, Miller, Mink, Nau, Nevin, Park, Raffa, Rantala, Rehni, Rehni, Richens, Sanchez Valiente, Sanchez-Hernandez, Schiemann, Shafaroodi, Sugimoto, Sutter, Tellez-Zenteno, Thundiyil, Varma, Voss, Wallenstein, Whyte, Yoshikawa   +48 more
core   +1 more source

Clinical, Biochemical, and Molecular Studies and Treatment of Pyridoxine-Dependent Epilepsy

Pediatric Neurology Briefs, 2013
Researchers at Autonomous University of Madrid, and other centers in Spain studied the clinical, biochemical, and genetic spectrum of pyridoxine-dependent epilepsy (PDE) in 12 patients with the clinically proven diagnosis.
J. Gordon Millichap
doaj   +1 more source

PRICKLE1-related early onset epileptic encephalopathy [PDF]

, 2018
The PRICKLE1 (Prickle Planar Cell Polarity Protein 1-MIM 608500) gene is involved in different phases of human development. The related diseases include autosomal recessive progressive myoclonus epilepsy - ataxia syndrome, neural tube defects associated ...
DI NOIA, S, Leuzzi, V, Martinelli, M, Mastrangelo, M, Parrini, E, Tolve, M   +5 more
core   +1 more source

Short-Term Neurodevelopmental Outcome in Term Neonates Treated with Phenobarbital versus Levetiracetam: A Single-Center Experience [PDF]

, 2019
BACKGROUND: Phenobarbital (PB) has been traditionally used as the first-line treatment for neonatal seizures. More recently, levetiracetam (LEV) has been increasingly used as a promising newer antiepileptic medication for treatment of seizures in ...
Barbagallo, M., Corsello, G., Falsaperla, R., Mauceri, L., Pavone, P., Pisani, F., Ruggieri, M., Vitaliti, G.   +7 more
core   +3 more sources

Infantile spams without hypsarrhythmia: A study of 16 cases [PDF]

, 2010
In this study, we present the electroclinical features and evolution of patients with epileptic spasms (ES) in clusters without hypsarrhythmia and with or without focal or generalized paroxysmal discharges on the interictal EEG.
Caraballo, Roberto Horacio, Ruggieri, Victor, Gonzalez, Gabriel, Cersósimo, Ricardo, Gamboni, Beatriz, Rey, Andrea, Poveda, Juan Carlos Perez, Dalla Bernardina, Bernardo   +7 more
core   +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