Results 121 to 130 of about 3,724 (217)

Treatment alternatives for Attention-Deficit/Hyperactivity Disorder (ADHD) [PDF]

, 1999
Objective: To review alternate treatments (Tx) of Attention-Deficit/Hyperactivity Disorder (ADHD)—those other than psychoactive medication and behavioral/psychosocial Tx—for the November, 1998 National Institute of Health (NIH) Consensus Development ...
Arnold, L. Eugene
core   +1 more source

Neuropathological mechanisms of seizures in autism spectrum disorder

Frontiers in Neuroscience, 2016
This manuscript reviews biological abnormalities shared by autism spectrum disorder (ASD) and epilepsy. Two neuropathological findings are shared by ASD and epilepsy: abnormalities in minicolumn architecture and -aminobutyric acid (GABA). The peripheral
Richard Eugene Frye, Manuel eCasanova, S Hossein eFatemi, Timothy eFolsom, Teri J Reutiman, Gregory Laurence Brown, Stephen M. Edelson, John eSlattery, James Brewster Adams   +8 more
doaj   +1 more source

Expanded carrier screening: A current perspective [PDF]

, 2018
Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb, Berghella, V, Carbone, Luigi, D'Alessandro, P, De Vivo, V, Esposito, G, Giuliani, Arduino, Maruotti, Gm, Mastantuoni, Enrica, Paternoster, M, Raffone, A, Saccone, G, Zullo, F.   +12 more
core   +1 more source

Diagnostic pitfalls in vitamin B6‐dependent epilepsy caused by mutations in the PLPBP gene

JIMD Reports, 2019
Vitamin B6‐responsive epilepsies are a group of genetic disorders including ALDH7A1 deficiency, PNPO deficiency, and others, usually causing neonatal onset seizures resistant to treatment with common antiepileptic drugs.
Kristian Vestergaard Jensen, Maria Frid, Tommy Stödberg, Michela Barbaro, Anna Wedell, Mette Christensen, Mads Bak, Jakob Ek, Camilla Gøbel Madsen, Niklas Darin, Sabine Grønborg   +10 more
doaj   +1 more source

New insights into human lysine degradation pathways with relevance to pyridoxine‐dependent epilepsy due to antiquitin deficiency [PDF]

, 2019
Lisa M. Crowther, Déborah Mathis, Martin Poms, Barbara Plecko   +3 more
openalex   +1 more source

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) [PDF]

, 2017
Chromosomal rearrangements with duplication of the lamin B1 (LMNB1) gene underlie autosomal dominant adult-onset demyelinating leukodystrophy (ADLD), a rare neurological disorder in which overexpression of LMNB1 causes progressive central nervous system ...
Antonarakis, Stylianos E., Atzori, Cristiana, Brusco, Alfredo, Brussino, Alessandro, Canale, Claudio, Di Gregorio, Eleonora, Ferrera, Denise, Ferrero, Enza, Gasparini, Laura, Giorgio, Elisa, Guipponi, Michel, Imperiale, Daniele, Pennacchio, Len A., Robyr, Daniel, Santoni, Federico, Spielmann, Malte, Stamoulis, Georgios, Vaula, Giovanna   +17 more
core  

Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy

, 2022
Laura A. Tseng, José E. Abdenur, Ashley Andrews, Verena G. Aziz, Levinus A. Bok, Monica Boyer, Daniela Buhaş, Hans Hartmann, Emma Footitt, Sabine Grønborg, Mirian C. H. Janssen, Nicola Longo, Roelineke J. Lunsing, Alex MacKenzie, Frits A. Wijburg, Sídney M. Gospe, Curtis R. Coughlin, Clara D.M. van Karnebeek   +17 more
openalex   +2 more sources

Epilepsy in Pakistan: national guidelines for clinicians (part 2) [PDF]

, 2015
In 2013 an international taskforce of the ILAE shaped out a communal definition of Epilepsy.(2) This definition is useful for all or most practical purposes, thus more helpful in management.
Akhter, Wasim, Ali, Shaukat, Barech, Saleem, Jooma, Rasheed, Majid, Haris, Malik, Abdul, Mustafa, Shahid, Sheerani, Mughis, Siddiqi, Fowzia, Siddiqi, Sarwar, Sultan, Tipu, Zaheer, Mohsin   +11 more
core   +5 more sources

Generation of hiPSC lines from four pyridoxine-dependent epilepsy (PDE) patients carrying the variant c.1279G>C in ALDH7A1 in homozygosis

Stem Cell Research
ALDH7A1 encodes for the enzyme catalyzing the third step of the lysine degradation pathway. Biallelic pathogenic variants in ALDH7A1 are associated with pyridoxine dependent epilepsy (PDE), of which the c.1279G>C (p.Glu427Gln) variant is the most ...
Imke M.E. Schuurmans, Clara D.M. van Karnebeek, Anita D.M. Hoogendoorn, Nael Nadif Kasri, Alejandro Garanto   +4 more
doaj   +1 more source

A Patient with Pyridoxine-Dependent Epilepsy Who Was Treated with Triple Therapy [PDF]

Annals of Child Neurology, 2022
Minsun Ryu, Ji-Hoon Na, Hyunjoo Lee, Young-Mock Lee   +3 more
doaj   +1 more source