Results 61 to 70 of about 11,690 (228)

Insights into ANKRD11‐related epilepsy from 163 people

Epilepsia, EarlyView.
Abstract Objective Ankyrin repeat domain 11 gene (ANKRD11) is the key disease gene for autosomal dominant KBG syndrome, and a subset of affected individuals develop epilepsy. However, comprehensive characterization of epilepsy‐related phenotypes and genotype–phenotype correlations in ANKRD11 variant carriers remains limited.
Song Su, Jian Ma, Qi Zhang, Wandong Hu, Ying Ren, Wenchao Zhang, Hongwei Zhang   +6 more
wiley   +1 more source

Que rostos da escola emergem quando em frente ao espelho

Horizontes, 2019
Este trabalho apresenta o conceito de heterotopia arquitetado por Michel Foucault, entre 1966 e 1967, na problematização das relações de saber na emergência de discursos e relações de poder no plano dos espaços.
Marcelo Vicentin
doaj   +1 more source

Complete seizure freedom following minimally invasive laser callosotomy in a patient with lissencephaly type 1: Challenging the traditional paradigm

Epileptic Disorders, EarlyView.
Agilda Dema, Archie Baskaran, Joshua Chang, Douglas Nordli III, Peter Warnke   +4 more
wiley   +1 more source

Impact of cenobamate on cortical responses to transcranial magnetic stimulation in people with drug‐resistant focal epilepsy

Epilepsia Open, EarlyView.
Abstract Objective Cenobamate (CNB) is an effective antiseizure medication, though its mechanisms of efficacy remain incompletely understood. We assessed changes in cortical responses to transcranial magnetic stimulation (TMS) following CNB treatment.
Silvano R. Gefferie, Diego Jiménez‐Jiménez, Gerhard H. Visser, Robert M. Helling, Arn M. J. M. van den Maagdenberg, Josemir W. Sander, Simona Balestrini, Roland D. Thijs   +7 more
wiley   +1 more source

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

Epilepsia Open, EarlyView.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris, Elizabeth Mathew, Shalini Bahl, Marta Villa‐Lopez, Saadet Mercimek‐Andrews   +4 more
wiley   +1 more source

HETEROTOPIA — DISJUNCTURE II [PDF]

Artist and curator Paul Jones continues the exploration of liminal spaces, separate from but parallel with reality. The first iteration of HETEROTOPIA — DISJUNCTURE took place in 2022 at 19a Parade Mews, London. Presenting the work of 6 international
Jones, Paul
core  

RELN gene-related drug-resistant epilepsy with periventricular nodular heterotopia treated with radiofrequency thermocoagulation: a case report

Frontiers in Neurology
An increasing number of gene mutations associated with epilepsy have been identified, some linked to gray matter heterotopia—a common cause of drug-resistant epilepsy.
Zijian Li, Fuli Wang, Zhidong He, Qi Guo, Jinnan Zhang, Songyan Liu   +5 more
doaj   +1 more source

Real‐world outcomes of responsive neurostimulation in patients with Lennox–Gastaut syndrome: A multicenter retrospective study

Epilepsia Open, EarlyView.
Abstract Objective Lennox–Gastaut syndrome (LGS) is a severe developmental and epileptic encephalopathy (DEE) characterized by multiple seizure types and high resistance to antiseizure medication (ASM), often necessitating nonpharmacologic therapies, including neuromodulation.
Shanna M. Swartwood, Robert J. Bollo, Catherine J. Chu, Alexandra L. Geffrey, Robert Mark Richardson, Hiroki Nariai, Aria Fallah, Samuel Ahn, Saadi Ghatan, Laura Chenevert, Maite La Vega‐Talbott, Audie C. Espinoza   +11 more
wiley   +1 more source

A Case Report of Nasal Glial Heterotopia

Nasal glial heterotopia (NGH), also known as nasal glioma, is a rare congenital malformation in which a mature glial cell mass is found in a location other than the central nervous system.
Greet Hens, Annelien Huygen, Joren Waumans, Jan Vranckx, Philippe De Vloo   +4 more
core   +1 more source

Double Cortex Syndrome

Pediatric Neurology Briefs, 1999
The incidence of mutations in the X-linked gene doublecortin in patients with “double cortex” syndrome (DC; also called subcortical band heterotopia or laminar heterotopia) and familial DC with lissencephaly was investigated in a cohort of 8 pedigrees ...
J Gordon Millichap
doaj   +1 more source