Results 61 to 70 of about 113,968 (310)

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

Generalized epilepsies: a review

Cleveland Clinic Journal of Medicine, 1984
In this discussion of the pathophysiology of generalized seizures, the authors conclude that current evidence supports a primarily cortical origin, and that there is a continuum between strictly partial seizures at one end of the spectrum and definite generalized seizures at the other.
H, Lüders, R P, Lesser, D S, Dinner, H H, Morris   +3 more
openaire   +2 more sources

The Sodium Channel B4-Subunits are Dysregulated in Temporal Lobe Epilepsy Drug-Resistant Patients [PDF]

, 2020
Temporal lobe epilepsy (TLE) is the most common type of partial epilepsy referred for surgery due to antiepileptic drug (AED) resistance. A common molecular target for many of these drugs is the voltage-gated sodium channel (VGSC).
Falciani, Francesco, Princivalle, Alessandra, Sheilabi, Mariam A., Sims, Edward J., Takeshita, Louise Y.   +4 more
core   +1 more source

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

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

Patterns of Postictal Abnormalities in Relation to Status Epilepticus in Adults

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Abnormalities on peri‐ictal diffusion‐weighted magnetic resonance imaging (DWI‐PMAs) are well‐established for patients with status epilepticus (SE), but knowledge on patterns of DWI‐PMAs and their prognostic impact is sparse. Methods This systematic review and individual participant data meta‐analysis included observational studies ...
Andrea Enerstad Bolle, Silvana Sarria‐Estrada, Thomas Bonduelle, Bertram Daniel Dynesen, Manuel Toledo, Zhu Chung Che, Kjell Heuser, Anastasios Chatzikonstantinou, Jérôme Aupy, Udaya Seneviratne, Estevo Santamarina Perez, Christoph Patrick Beier   +11 more
wiley   +1 more source

Long-term mortality risk of people with epilepsy who underwent seizure monitoring

Annals of Indian Academy of Neurology, 2019
Aim: The aim is to study survival outcome and sudden unexpected death in epilepsy (SUDEP) of people with epilepsy who underwent epilepsy monitoring. Subjects and Methods: Between 2000 and 2004, 558 persons were admitted to the epilepsy monitoring unit of
Shishir N Duble, V S Nandini, Ashalatha Radhakrishnan, Ramshekhar Menon, Ajith Cherian, P Sankara Sarma, Sanjeev V Thomas   +6 more
doaj   +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

Polygenic risk scores as a marker for epilepsy risk across lifetime and after unspecified seizure events

Nature Communications
A diagnosis of epilepsy has significant consequences for an individual but is often challenging in clinical practice. Novel biomarkers are thus greatly needed.
Henrike O. Heyne, Fanny-Dhelia Pajuste, Julian Wanner, Jennifer I. Daniel Onwuchekwa, Reedik Mägi, Aarno Palotie, FinnGen, Estonian Biobank research team, Reetta Kälviainen, Mark J. Daly   +9 more
doaj   +1 more source

Chronotypes in Patients with Epilepsy: Does the Type of Epilepsy Make a Difference?

Behavioural Neurology, 2015
Circadian rhythms govern all biological functions. Circadian misalignment has a major impact on health. Late chronotype is a risk factor for circadian misalignment which in turn can affect the control of seizures in epilepsy patients. We compared a group
Hallie Kendis, Kelly Baron, Stephan U. Schuele, Bhavita Patel, Hrayr Attarian   +4 more
doaj   +1 more source