Results 71 to 80 of about 53,278 (329)

Connexin36 knockout mice display increased sensitivity to pentylenetetrazol-induced seizure-like behaviors [PDF]

, 2010
Large-scale synchronous firing of neurons during seizures is modulated by electrotonic coupling between neurons via gap junctions. To explore roles for connexin36 (Cx36) gap junctions in seizures, we examined the seizure threshold of connexin36 knockout (
Cursons, Raymond T., Jacobson, Gregory M., Mason, Jonathan P., Melin, Sofia M., Sleigh, James W., Steyn-Ross, D. Alistair, Steyn-Ross, Moira L., Voss, Logan J.   +7 more
core   +2 more sources

Predicting Epileptogenic Tubers in Patients With Tuberous Sclerosis Complex Using a Fusion Model Integrating Lesion Network Mapping and Machine Learning

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Accurate localization of epileptogenic tubers (ETs) in patients with tuberous sclerosis complex (TSC) is essential but challenging, as these tubers lack distinct pathological or genetic markers to differentiate them from other cortical tubers.
Tinghong Liu, Qi Wang, Suhui Kuang, Dezhi Cao, Ping Ding, Shaohui Zhang, Haihua Wei, Zhirong Wei, Jinshan Xu, Xinyu Huang, Bing Liu, Shuli Liang   +11 more
wiley   +1 more source

How to diagnose and classify idiopathic (genetic) generalized epilepsies [PDF]

Epileptic Disorders, 2020
AbstractIdiopathic or genetic generalized epilepsies (IGE) constitute an electroclinically well‐defined group that accounts for almost one third of all people with epilepsy. They consist of four well‐established syndromes and some other rarer phenotypes.
Elmali, Ayse Deniz, Auvin, Stephane, Bast, Thomas, Rubboli, Guido, Koutroumanidis, Michalis   +4 more
openaire   +4 more sources

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

IDIOPATHIC PARTIAL EPILEPSY WITH AUDITORY FEATURES (IPEAF): A CLINICAL AND GENETIC STUDY OF 53 SPORADIC CASES [PDF]

, 2004
The purpose of our study was to describe the clinical characteristics of sporadic (S) cases of partial epilepsy with auditory features (PEAF) and pinpoint clinical, prognostic and genetic differences with respect to previously reported familial (F ...
AVONI P, BAGATTIN A, BARUZZI A, BISULLI F, D'ORSI G, FLORINDO I, MICHELUCCI R., NOBILE C, SCUDELLARO E, STRIANO P, STRIANO, SALVATORE, TASSINARI CA, TINUPER P, VIGNATELLI L   +13 more
core  

Automatic epilepsy detection using fractal dimensions segmentation and GP-SVM classification [PDF]

, 2018
Objective: The most important part of signal processing for classification is feature extraction as a mapping from original input electroencephalographic (EEG) data space to new features space with the biggest class separability value.
Jirka, Jakub, Krejcar, Ondřej, Kuča, Kamil, Prauzek, Michal   +3 more
core   +1 more source

Exploration of the Genetic Architecture of Idiopathic Generalized Epilepsies [PDF]

Epilepsia, 2006
Summary:  Purpose: Idiopathic generalized epilepsy (IGE) accounts for ∼20% of all epilepsies and affects about 0.2% of the general population. The etiology of IGE is genetically determined, but the complex pattern of inheritance suggests an involvement of a large number of susceptibility genes.
Hempelmann A., Taylor K. P., Heils A., Lorenz S., Prud'Homme J. -F., Nabbout R., Dulac O., Rudolf G., Zara F., Bianchi A., Robinson R., Mark Gardiner R., Covanis A., Lindhout D., Stephani U., Elger C. E., Weber Y. G., Lerche H., Nurnberg P., Kron K. L., Scheffer I. E., Mulley J. C., Berkovic S. F., Sander T.   +23 more
openaire   +4 more sources

ALS With and Without Upper Motor Neuron Signs: A Comparative Study Supporting the Gold Coast Criteria

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The Gold Coast criteria permit diagnosis of amyotrophic lateral sclerosis (ALS) even without upper motor neuron (UMN) signs. However, whether ALS patients with UMN signs (ALSwUMN) and those without (ALSwoUMN) share similar characteristics and prognoses remains unclear.
Hee‐Jae Jung, E‐nae Cheong, Jungmin So, Heung‐Won Kang, Yangsean Choi, Eun‐Jae Lee, Hyunjin Kim, Young‐Min Lim   +7 more
wiley   +1 more source

Abnormal hippocampal melatoninergic system: a potential link between absence epilepsy and depression-like behavior in WAG/Rij rats? [PDF]

, 2018
Absence epilepsy and depression are comorbid disorders, but the molecular link between the two disorders is unknown. Here, we examined the role of the melatoninergic system in the pathophysiology of spike and wave discharges (SWDs) and depression-like ...
Battaglia, Giuseppe, Bucci, Domenico, Celli, Roberta, De Fusco, Antonio, Mastroiacovo, Federica, Moyanova, Slavianka, Nicoletti, Ferdinando, Santolini, Ines, Tchekalarova, Jane   +8 more
core   +1 more source

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda, Hyo‐Min Kim, Nicole Battaglia, Joshua Rong, Amy Tam, Enrique Gonzalez Saez‐Diez, Cornelius F. Boerkoel, Afshin Saffari, Vicente Quiroz, Luca Schierbaum, Zainab Zaman, Katerina Bernardi, Darius Ebrahimi‐Fakhari   +12 more
wiley   +1 more source