Results 161 to 170 of about 403,746 (315)

Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 501-509, December 2022., 2022
Abstract Gene variants that dysregulate signaling through the RAS‐MAPK pathway cause cardiofaciocutaneous syndrome (CFCS), a rare multi‐system disorder. Infantile epileptic spasms syndrome (IESS) and other forms of epilepsy are among the most serious complications.
Daniel L. Kenney‐Jung   +14 more
wiley   +1 more source

Deep brain and cortical stimulation for epilepsy [PDF]

open access: yes, 2014
Background : Despite optimal medical treatment, including epilepsy surgery, many epilepsy patients have uncontrolled seizures. In the last decades, interest has grown in invasive intracranial neurostimulation as a treatment for these patients ...
Anderson   +63 more
core   +1 more source

Simultaneous Detection of Neural Activity and Temperature in Photothermal Neural Stimulation

open access: yesAdvanced Science, EarlyView.
Photothermal neuromodulation technology faces limitations in understanding its mechanisms and effects on cellular behavior due to the difficulty of directly measuring temperature changes at the cell interface during optical stimulation of neurons. To overcome this challenge, ultrasensitive, transparent temperature sensors integrated with low‐noise ...
Duhee Kim   +8 more
wiley   +1 more source

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

open access: yesAmerican 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   +4 more
wiley   +1 more source

Lack of appropriate controls leads to mistaking absence seizures for post-traumatic epilepsy [PDF]

open access: yesarXiv, 2015
Here we provide a thorough discussion of a rebuttal by D'Ambrosio et al to a study conducted by Rodgers et al. (Rodgers KM, Dudek FE, Barth DS (2015) Progressive, Seizure-Like, Spike- Wave Discharges Are Common in Both Injured and Uninjured Sprague-Dawley Rats: Implications for the Fluid Percussion Injury Model of Post-Traumatic Epilepsy.
arxiv  

Epileptiform Activity and Seizure Risk Follow Long‐Term Non‐Linear Attractor Dynamics

open access: yesAdvanced Science, EarlyView.
This study leverages the HAVOK framework to model long‐term, nonlinear attractor dynamics underlying epileptiform activity and seizure risk in epilepsy patients. By identifying key forcing mechanisms driving chaotic transitions, the findings improve seizure risk forecasting over multi‐day cycles and provide a pathway for personalized, data‐driven ...
Richard E Rosch   +4 more
wiley   +1 more source

MUTATIONS IN THE ARX GENE: CLINICAL, ELECTROENCEPHALOGRAPHIC AND NEUROIMAGING FEATURES IN 3 PATIENTS

open access: yesРусский журнал детской неврологии, 2017
The Aristaless-related homeobox (ARX) gene is a member of the paired-type homeodomain transcription factor family with critical roles in embryonic development, particularly in the developing brain.
I. V. Ivanova   +5 more
doaj   +1 more source

Personalised network modelling in epilepsy [PDF]

open access: yesarXiv, 2019
Epilepsy is a disorder characterised by spontaneous, recurrent seizures. Both local and network abnormalities have been associated with epilepsy, and the exact processes generating seizures are thought to be heterogeneous and patient-specific. Due to the heterogeneity, treatments such as surgery and medication are not always effective in achieving full
arxiv  

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