Results 111 to 120 of about 15,406 (277)
Annals of the Child Neurology Society, Volume 3, Issue 4, Page 314-323, December 2025.ABSTRACT Background Pathogenic CYFIP2 variants cause developmental and epileptic encephalopathy (DEE), characterized by early‐onset intractable epilepsy and developmental delay. The disease course has not been delineated. Codon Arg87 is a de novo mutational hotspot associated with a severe DEE phenotype via gain‐of‐function mechanisms. Currently, there
Michaela Squire +3 more
wiley +1 more source
Neuropsychiatric Disease and Treatment, 2023 Avantika Singh,1,* Aristides Hadjinicolaou,1,* Jurriaan M Peters,1 Catherine L Salussolia1,2 1Division of Epilepsy and Neurophysiology, Department of Neurology, Boston Children’s Hospital and Harvard Medical School, Boston, MA, USA; 2F.M.
Singh A +3 more
doaj
Vigabatrin-Induced Seizures in Angelman Syndrome
Pediatric Neurology Briefs, 1998 Four children with Angelman syndrome (AS) showed worsening of seizures after introduction of vigabatrin (VGB), at the University Children’s Hospital, Zurich, Switzerland.
J Gordon Millichap
doaj +1 more source
Downbeat nystagmus: aetiology and comorbidity in 117 patients [PDF]
, 2008 Objectives: Downbeat nystagmus (DBN) is the most common form of acquired involuntary ocular oscillation overriding fixation. According to previous studies, the cause of DBN is unsolved in up to 44% of cases.
Brandt, Thomas +3 more
core +1 more source
Alcohol, Clinical and Experimental Research, Volume 49, Issue 12, Page 2633-2648, December 2025.This systematic review emphasizes the critical role of GABAB receptors (GABABR) in alcohol use disorder (AUD). While GABABR agonists enhance cortical inhibition, as measured by transcranial magnetic stimulation (TMS)‐based markers, alcohol consumption alters GABABR ‐dependent neurophysiological measures, suggesting GABABR dysfunction plays a key role ...
Chiara Montemitro +4 more
wiley +1 more source
Frontiers in Neuroscience, 2019 Broad-scale untargeted biochemical phenotyping is a technology that supplements widely accepted assays, such as organic acid, amino acid, and acylcarnitine analyses typically utilized for the diagnosis of inborn errors of metabolism.
Adam D. Kennedy +13 more
doaj +1 more source
Neue Entwicklungen in der Pharmakotherapie der Kokainabhängigkeit [PDF]
, 2018 Zusammenfassung: Es zeichnen sich neue medikamentöse Behandlungsmöglichkeiten der Kokainabhängigkeit ab. So gelang es erstmals mit Disulfiram in einer randomisierten, kontrollierten Studie, den Kokainkonsum signifikant zu reduzieren.
Dürsteler-MacFarland, K., Wiesbeck, G.
core
Vigabatrin-associated Reversible MRI Abnormalities in an Infant with Tuberous Sclerosis [PDF]
, 2021 Joseph Franklin Craft +1 more
openalex +1 more source
Epilepsy, Antiepileptic Drugs, and Aggression: An Evidence-Based Review. [PDF]
, 2016 Antiepileptic drugs (AEDs) have many benefits but also many side effects, including aggression, agitation, and irritability, in some patients with epilepsy.
Alan B. Ettinger +60 more
core +3 more sources
Musicogenic Epilepsy in An Infant
Pediatric Neurology Briefs, 2003 A 6-month-old infant with seizures triggered by loud music, especially specific songs of the Beatles, is reported from Chang Gung Children’s Hospital at Linkou, Taoyuan, Taiwan.
J Gordon Millichap
doaj +1 more source