Results 11 to 20 of about 22,438 (261)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Circadian patterns of generalized tonic–clonic evolutions in pediatric epilepsy patients [PDF]

Seizure, 2012
To investigate the sleep/wake, day/night, and 24-h periodicity of pediatric evolution to generalized tonic-clonic seizures (GTC).Charts of 407 consecutive patients aged 0-21 years undergoing continuous video-EEG monitoring for epilepsy were reviewed for the presence of GTC evolution.
Ramgopal, Sriram, Vendrame, Martina, Shah, Aneri, Gregas, Matt, Zarowski, Marcin, Rotenberg, Alexander, Alexopoulos, Andreas V., Wyllie, Elaine, Kothare, Sanjeev V., Loddenkemper, Tobias   +9 more
openaire   +2 more sources

"A case of self-induced reflex epilepsy " [PDF]

Acta Medica Iranica, 2000
The term reflex epilepsy in reserved for a small subgroup o seizures that occur regularly in response to specific stimuli. Our patient is a 20- year old male, who had pleasure, euphoria, loss of conciousness and generalized tonic- clonic convulstion when
"Moatamedi M, Banki A, Sahraian M "   +2 more
doaj   +1 more source

Cognitive functions and epilepsy-related characteristics in patients with generalized tonic–clonic epilepsy: a cross-sectional study

Middle East Current Psychiatry, 2023
Background Epilepsy is a brain disorder affecting nearly 65 million people worldwide. It is characterized by sudden, transient, and uncontrolled episodes of brain dysfunction secondary to hypersynchronous abnormal discharge of cortical neuronal cells ...
Nesma Mohamed Sayed, Magda Taha Kamal Aldin, Samir Elshamly Ali, Ahmed Elarabi Hendi   +3 more
doaj   +1 more source

Carbamazepine treatment of generalized tonic–clonic seizures in idiopathic generalized epilepsy [PDF]

Seizure, 2014
AbstractPurposeEvaluate the efficacy of carbamazepine in the treatment of idiopathic generalized epilepsy (IGE).MethodThe response of five patients with IGE, who experienced primarily generalized tonic–clonic seizures which were refractory to multiple antiepileptic drugs, is reported.ResultsCarbamazepine controlled multiple seizure types and did not ...
Kenyon, Katharine, Mintzer, Scott, Nei, Maromi   +2 more
openaire   +2 more sources

Cyclooxygenase-2 Inhibition as an Add-On Strategy in Drug Resistant Epilepsy—A Canine Translational Study

Frontiers in Veterinary Science, 2022
Drug-resistant epilepsy is a common complaint in dogs and affects up to 30% of dogs with idiopathic epilepsy. Experimental data suggest that targeting cyclooxygenase-2 (COX-2) mediated signaling might limit excessive excitability and prevent ictogenesis.
Andrea Fischer, Velia-Isabel Hülsmeyer, Viviana P. Munoz Schmieder, Andrea Tipold, Marion Kornberg, Florian König, Felix K. Gesell, Liza K. Ahrend, Holger A. Volk, Heidrun Potschka   +9 more
doaj   +1 more source

Deep brain stimulation in a patient with progressive myoclonic epilepsy and ataxia due to potassium channel mutation (MEAK). A case report and review of the literature

Epilepsy & Behavior Reports, 2023
Progressive myoclonic epilepsy (PME) is characterized by prominent myoclonus, generalized tonic-clonic seizures, and less often focal, tonic, or absence seizures.
Michał Sobstyl, Nina Kożuch, Magdalena Iwaniuk-Gugała, Angelika Stapińska-Syniec, Magdalena Konopko, Paweł Jezierski   +5 more
doaj   +1 more source

Intractable childhood epilepsy with generalized tonic-clonic seizure.

Journal of the Japan Epilepsy Society, 1989
われわれは大発作を主徴とする小児の難治てんかんの7症例を報告する。この7症例の臨床特徴は,1) 明らかな推定原因疾患をもたず, てんかん発病までおおむね正常範囲内の発達にあった。2) 発病は1歳未満であった。3) 初発時および乳児期の発作型は主として一側ないしは全般性間代発作か全般性強直間代発作であるが, 幼児期にいたると全般性強直間代発作をくりかえすようになり, 以後きわめて治療抵抗性に経過した。4) 経過中に複雑部分発作とみなされる発作をもつ症例があったが, 一過性であった。5) 発病当初には著しくないが, 経齢に従って精神遅滞が次第に明らかとなった。6) 発病当初の脳波にはてんかん性発射を欠き, その後全般性棘・徐波複合ないし多棘・徐波複合を呈するようになった。しかしその頻度は ...
Watanabe, Masako, Fujiwara, Tateki, Yagi, Kazuichi, Seino, Masakazu, Higashi, Takushi   +4 more
openaire   +2 more sources

The Generalized Tonic‐Clonic Seizure in Partial Versus Generalized Epilepsy: Semiologic Differences [PDF]

Epilepsia, 1999
Summary: Purpose: To study differences in the clinical manifestations of generalized tonic‐clonic seizures (GTCS) of partial versus generalized onset. Methods: We studied 10 GTCSs in nine patients with idio‐pathic generalized epilepsy (IGE) and 10 GTCSs in 10 patients with temporal lobe epilepsy (TLE).
F E, Niaz, B, Abou-Khalil, T, Fakhoury
openaire   +2 more sources

A Case of anxiety disorder acquired subsequent to hot water epilepsy [PDF]

Düşünen Adam Psikiyatri ve Nörolojik Bilimler Dergisi, 2014
Hot water epilepsy is a rarely seen type of reflex epilepsy. It is induced by the contact of very hot water to head while having a shower. Complex partial or generalized tonic-clonic seizures can be seen.
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