Results 131 to 140 of about 69,244 (314)

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Different Characteristics between the Generalized and Partial Epilepsy Based on the Family History of Epilepsy

مجله دانشکده پزشکی اصفهان, 2016
Background: In etiology of epilepsy, different factors have role and one of them is genetics. This study aimed to investigate the differences between generalized and partial epilepsy based on the family history.
Mohammad Reza Najafi, Shima Saeidi, Shahrzad Nematollahi, Rokhsareh Meamar   +3 more
doaj  

Magnetic Resonance Imaging findings in pediatric patients with Epilepsy: a single-center experience from Pakistan

Khyber Medical University Journal
OBJECTIVE: To determine the structural abnormalities on magnetic resonance imaging (MRI) in the epileptic Pakistani pediatric population presenting at Tertiary Care Hospital, Karachi. METHODS: This cross-sectional descriptive study was done at the CT &
Rehana Shaikh, Saba Sohail, Sabiha Zaheer   +2 more
doaj   +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

Clinical Outcomes and Patient Experiences With Celiprolol Therapy in Vascular Ehlers–Danlos Syndrome: The First Non‐European Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder caused by heterozygous pathogenic variants in COL3A1. European studies have shown that celiprolol may reduce the risk of life‐threatening vascular events, but outcomes in non‐European populations and the therapy's psychological impact remain unclear. We conducted
Megumi Furuhata‐Yoshimura, Tomomi Yamaguchi, Tomoki Kosho   +2 more
wiley   +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

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

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

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

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