Results 91 to 100 of about 15,063 (315)

Condotte compulsive in paziente con sindrome di Aicardi. agenesia del corpo calloso [PDF]

open access: yes, 2013
The corpus callosum, which is the largest white matter structure in the brain of all placental mammals, connects the left and right cerebral hemispheres.
A. Anastasia   +6 more
core  

Electro‐clinical features of Mowat–Wilson syndrome: A retrospective study of 31 children in mainland China

open access: yesEpileptic Disorders, EarlyView.
Abstract Objective To summarize the electro‐clinical and genetic characteristics of children with Mowat–Wilson syndrome (MWS). Methods This study is a hospital‐based case series analyzing clinical data from 31 pediatric patients with MWS and epilepsy treated at Peking University First Hospital between June 2020 and December 2024.
Yi Ju, Tao‐yun Ji
wiley   +1 more source

WONOEP appraisal: New genetic approaches to study epilepsy [PDF]

open access: yes, 2014
New genetic investigation techniques, including next-generation sequencing, epigenetic profiling, cell lineage mapping, targeted genetic manipulation of specific neuronal cell types, stem cell reprogramming, and optogenetic manipulations within epileptic
Albert J. Becker   +8 more
core   +2 more sources

Significance of High-frequency Electrical Brain Activity [PDF]

open access: yes, 2017
 Electroencephalogram (EEG) data include broadband electrical brain activity ranging from infra-slow bands (200 / 250 Hz, respectively) are particularly of note due to their very close relationship to epileptogenicity, with the possibility that they ...
Agari, Takashi   +9 more
core   +1 more source

Pallister—Killian syndrome: an unusual cause of epileptic spasms [PDF]

open access: yesDevelopmental Medicine & Child Neurology, 2005
Pallister‐Killian syndrome (PKS) is a rare, sporadic, genetic disorder characterized by dysmorphic features, learning disability *, and epilepsy. It is caused by a mosaic supernumerary isochromosome 12p (i[12p]). The i(12p) is rarely found in peripheral blood but it is present in skin fibroblasts. Recognition is essential for cytogenetic diagnosis.
Rocio, Sánchez-Carpintero   +7 more
openaire   +2 more sources

Pseudoaneurysms as a complication of stereoelectroencephalography: Case series and clinical recommendations

open access: yesEpilepsia, EarlyView.
Abstract Objective Stereoelectroencephalography (sEEG) is commonly employed in the workup for epilepsy surgery in patients with focal drug‐resistant epilepsy (DRE). Intracranial hemorrhage is a known complication, with reported incidence rates ranging from .9% to 19.1%. Rarely, pseudoaneurysms have been reported in literature as a potential cause. This
Youssra El Khou   +35 more
wiley   +1 more source

Outcomes of West syndrome: literature review and own data

open access: yesРусский журнал детской неврологии, 2020
The article is devoted to the treatment and prediction of outcomes of West syndrome. The analysis of literary and own data was carried out. Was estimated the effectiveness of treatment and predicted the outcomes of the disease by data of anamnesis ...
T. M. Prygunova
doaj   +1 more source

mTOR pathway inhibition as a new therapeutic strategy in epilepsy and epileptogenesis. [PDF]

open access: yes, 2016
Several preclinical and some clinical studies have revealed that the mammalian target of rapamycin (mTOR) signaling pathway is involved in both genetic and acquired epilepsy syndromes.
Citraro, R   +4 more
core   +1 more source

Weaning from ketogenic diet therapy in children with epilepsy: Insights from a retrospective study

open access: yesEpilepsia, EarlyView.
Abstract Objective This study was undertaken to describe weaning practices following ketogenic diet therapy (KDT) in children with epilepsy and to identify clinical factors associated with seizure exacerbation or antiseizure medication adjustments during or after weaning from KDT.
Noémie Donnard   +10 more
wiley   +1 more source

Lafora Disease Masquerading as Hepatic Dysfunction [PDF]

open access: yes, 2018
Lafora disease is fatal intractable progressive myoclonic epilepsy. It is frequently characterized by epileptic seizures, difficulty walking, muscle spasms, and dementia in late childhood or adolescence.
Abdullah, Hafez Mohammad A.   +6 more
core   +1 more source

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