Results 131 to 140 of about 71,386 (306)

Altered expression of the voltage-gated calcium channel subunit α2δ-1: a comparison between two experimental models of epilepsy and a sensory nerve ligation model of neuropathic pain.

, 2014
The auxiliary α2δ-1 subunit of voltage-gated calcium channels is up-regulated in dorsal root ganglion neurons following peripheral somatosensory nerve damage, in several animal models of neuropathic pain.
Sandhu, G, Bauer, CS, Dolphin, AC, Jiruska, P., Jefferys, J.G.R., Nieto-Rostro, M., Sandhu, G., Dolphin, A.C., Bauer, C.S., Jiruska, P, Nieto-Rostro, M, Jefferys, JG   +11 more
core   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Corrigendum to: UNC13B variants associated with partial epilepsy with favourable outcome. [PDF]

Brain, 2022
europepmc   +1 more source

New developments in the treatment of partial-onset epilepsy

, 2012
Frank MC Besag,1,2 Philip N Patsalos3,41South Essex Partnership University NHS Foundation Trust (SEPT), Mid Beds Clinic, Bedford, Bedfordshire, UK; 2Institute of Psychiatry, London, UK; 3Pharmacology and Therapeutics Unit, Department of Clinical and ...
Patsalos PN, Besag FM
core  

Blood levels of cytokines in children with idiopathic partial and generalized epilepsy

, 2013
PurposeAntiepileptic drugs have been reported to reduce the levels of serum immunoglobulins and affect the production and levels of certain cytokines.
Serin, Hepsen Mine, Alver, Ahmet, Can, Gamze, Aliyazicioglu, Rezzan, Cane, Gamze, Sonmez, Fatma Mujgan, Zaman, Dilek, Cansu, Ali   +7 more
core   +1 more source

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

Nonverbal dichotic test in patients with epilepsy

Dementia & Neuropsychologia
Auditory processing during childhood may be altered if there is any predisposing factor during the course of development. Neurological disorders are among the risk factors for auditory processing disorders.
Karin Zazo Ortiz, Liliane Desgualdo Pereira, Alda Christina Lopes de Carvalho, Luiz Celso Pereira Vilanova   +3 more
doaj   +1 more source

Epilepsy – A Brief Overview

, 2005
Epilepsy is a neurological condition in which an individual experiences chronic abnormal bursts of electrical discharge in the brain. These seizures can cause a variety symptoms depending on the areas of the brain affected. Symptoms can vary from mild to
Koyama, Alain
core  

Características clínicas e demográficas associadas à direção de veículos automotores e acidentes automobilísticos em pacientes com epilepsia [PDF]

, 2012
Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde. Programa de Pós-Graduação em Ciências MédicasEpilepsia é um distúrbio neurológico frequente, com uma prevalência mundial de 1,0%, que pode acarretar limitações ...
Bicalho, Maria Alice Horta
core  

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source