Results 151 to 160 of about 826,950 (244)

Functional profiling of STXBP1 missense variants using a novel dual‐readout fluorometric assay

Epilepsia, EarlyView.
Abstract Objective STXBP1‐related disorders (STXBP1‐RD) are among the most common genetic neurodevelopmental disorders, marked by early onset epilepsy, global developmental delay, and motor impairments. Many missense variants remain uncharacterized, limiting accurate variant interpretation and hindering development of precision therapies.
Elisa A. Waxman, Jennine M. Dawicki‐McKenna, Ian McSalley, Anna J. Prentice, Torrey A. Chisari, Sarah M. Ruggiero, Jillian L. McKee, Alex J. Felix, Giulia Pavani, Benjamin L. Prosser, Michael J. Boland, Ingo Helbig   +11 more
wiley   +1 more source

When Steroids Complicate the Diagnosis: Recurrent Steroid-Induced Psychosis, Severe Hyponatraemia With Generalized Tonic-Clonic Seizure, and Acute Lacunar Infarction During Treatment for Suspected Giant Cell Arteritis. [PDF]

Cureus
Reyad B.
europepmc   +1 more source

Syndrome of Inappropriate Antidiuretic Hormone Secretion (SIADH) Complicated by Generalized Tonic-Clonic Seizures After a Course of Antibiotics: A Case Report. [PDF]

Cureus, 2023
Sanni MO, Rajkanna J, Sagi SV, Oyibo SO.
europepmc   +1 more source

Correction: Generalized tonic-clonic seizures as the initial symptom of late-onset Krabbe disease: a Case Report. [PDF]

Front Behav Neurosci
Xie S, Kuang Z, Pan M, Zhang K, Ye J, Li B, Luo S, Wang Z.   +7 more
europepmc   +1 more source

Evaluation of efficacy and safety of clobazam as an add-on drug in the treatment of generalized tonic-clonic seizure not controlled with valproic acid monotherapy. [PDF]

J Educ Health Promot, 2023
Das S, Mandal S, Maiti T, Mukhopadhyay O.   +3 more
europepmc   +1 more source

Kv3.1 activation suppresses provoked and spontaneous seizures in a mouse Dravet syndrome model

Epilepsia, EarlyView.
Abstract Objective γ‐Aminobutyric acidergic (GABAergic) parvalbumin‐positive (PV+) interneurons are critical for maintaining cortical inhibitory tone, with their dysfunction predictably leading to epilepsy. Rapid PV+ interneuron firing is essential for their normal function and is maintained in part by potassium voltage‐gated channels.
Sheryl Anne D. Vermudez, Mustafa Q. Hameed, Yongho Choe, Gabrielle E. McGinty, Amanda M. Liebhardt, Rui Lin, Benjamin Hui, Yini Liang, David J. Arce, Henry H. C. Lee, Mustafa Sahin, Alexander Rotenberg   +11 more
wiley   +1 more source

Generalized tonic-clonic seizures as the initial symptom of late-onset Krabbe disease: a Case Report. [PDF]

Front Behav Neurosci
Xie S, Kuang Z, Pan M, Zhang K, Ye J, Li B, Luo S, Wang Z.   +7 more
europepmc   +1 more source

Cannabidiol attenuates generalized tonic-clonic and suppresses limbic seizures in the genetically epilepsy-prone rats (GEPR-3) strain. [PDF]

Pharmacol Rep, 2023
Lazarini-Lopes W, Campos-Rodriguez C, Garcia-Cairasco N, N'Gouemo P, Forcelli PA.   +4 more
europepmc   +1 more source

Adeno‐associated virus‐mediated restoration of NaV1.1 in targeted brain regions ameliorates epilepsy in symptomatic Dravet syndrome mice

Epilepsia, EarlyView.
Abstract Objective Dravet syndrome (DS) is a developmental and epileptic encephalopathy primarily caused by haploinsufficiency of the SCN1A gene, which encodes the alpha subunit of NaV1.1 voltage‐gated sodium channel. The disease manifests with febrile and spontaneous seizures, developmental delay, cognitive impairment, and increased risk of sudden ...
Martina Mainardi, Simone Brusco, Serena Gea Giannelli, Vania Broccoli, Gaia Colasante   +4 more
wiley   +1 more source

Catecholaminergic Polymorphic Ventricular Tachycardia Presented As Generalized Tonic-Clonic Seizure: A Case Report. [PDF]

Cureus, 2022
Acharya S, Devkota P, Shrestha R, Bajracharya AK, Jesmajian S.   +4 more
europepmc   +1 more source