Results 121 to 130 of about 69,249 (312)

A Rare Epilepsy Type: Eating Epilepsy

, 2017
Eating epilepsy is a rare type of reflex epilepsy. Genetic factors, types of food, and eating habits are important. Presently described is case of a 28-year-old man with simple partial and secondary generalized epilepsy, provoked especially by fatty or ...
Ayhan BÖLÜK, Bölük, Ayhan, Zeynep Ozozen Ayas   +2 more
core   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Revisiting the clinical impact of variants in EFHC1 in patients with different phenotypes of genetic generalized epilepsy

, 2020
The most common form of genetic generalized epilepsy (GGE) is juvenile myodonic epilepsy (JME), which accounts for 5 to 10% of all epilepsy cases. The gene EFHC1 has been implicated as a putative cause of JME.
Lopes-Cendes, Iscia, Ribeiro, Patricia A. O., Guerreiro, Carlos M., Gitai, Daniel L. G., Gonsales, Marina C., Cendes, Fernando, Alvim, Marina K. M., Betting, Luiz E. [UNESP], Yasuda, Clarissa L.   +8 more
core   +1 more source

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson   +6 more
wiley   +1 more source

A two‐sample Mendelian randomization study and mediation analysis exploring the link between cathepsins and epilepsy

Epilepsia Open
Objective This study aims to investigate the causal relationship between cathepsins and epilepsy, using Mendelian randomization (MR) and mediation analysis.
Huaiyu Sun, Di Ma, Wuqiong Zhang, Shuai Hou, Zhiqing Chen, Xuewei Li, Hongmei Meng, Daguang Zhang   +7 more
doaj   +1 more source

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source

Pregnancy and Epilepsy: Monitoring and Treating the Seizures

, 2019
Objectives:Epilepsy is the second most common neurological disorder after migraine in pregnancy. The most suitable antiepileptic drug (AED) to be chosen in this period would minimize the possible maternal and fetal complications.
Gizem GÜRSOY, Yılmaz ÇETİNKAYA, Buse Rahime HASIRCI BAYIR, Kemal TUTKAVUL   +3 more
core   +1 more source

Sudden Unexpected Death in Epilepsy: Two Case Reports

, 2016
Sudden Unexpected Death in Epilepsy (SUDEP) is generally defined as sudden, unexpected, witnessed or unwitnessed, non-traumatic, and non-drowning death in patients with epilepsy, excluding documented status epilepticus. Reported SUDEP cases in Turkey are
Güray KOÇ, Semai BEK, Gençer GENÇ, Zeki GÖKÇİL   +3 more
core   +1 more source

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

Animal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang, Keru Li, Lei Tan, Wei Chen, Shan Gao, Chenyang Liu, Shuo Pan, Jiayue He, Ning Liu, Gefan Wan, Wei Dong, Weining Kong, Bin Shen, Xiaolong Qi, Yuanwu Ma   +14 more
wiley   +1 more source

Auditory Stimulation of Slow‐Wave Sleep Promotes Recovery after Brain Injury in an Animal Model

Annals of Neurology, EarlyView.
Objective Traumatic brain injury (TBI) significantly reduces the quality of life for millions of survivors worldwide, causing persistent brain tissue damage and cognitive impairments, with no established therapeutic interventions currently available.
Carlos G. Moreira, Adrian Müllner, Meltem Gönel, Pascal Hofmann, Filipe Teixeira, Rosa C. Paolicelli, Inês Dias, Sergio I. Nemirovsky, Christian R. Baumann, Daniela Noain   +9 more
wiley   +1 more source