Results 101 to 110 of about 24,154 (255)
Ibrain, Volume 11, Issue 1, Page 98-105, Spring 2025.Mendelian randomization (MR) studies were conducted using the inverse‐variance weighted (IVW) method, MR‐Egger and weighted median on juvenile myoclonic epilepsy (JME), and systemic lupus erythematosus (SLE) data from the Integrative Epidemiology Unit (IEU) Open genome‐wide association study (GWAS) database and the International League Against Epilepsy
Sirui Chen +10 more
wiley +1 more source
Sahel Medical Journal, 2016 Until recently, genetic generalized epilepsy (GGE) was believed to be of presumed genetic etiology with no identifiable genetic mutation or demonstrable epigenetic abnormality. A wide range of epileptic disorders has clue for an inherited susceptibility.
S A Balarabe, M M Watila
doaj +1 more source
Gain of function mutants: Ion channels and G protein-coupled receptors [PDF]
, 2000 Many ion channels and receptors display striking phenotypes for gain-of-function mutations but milder phenotypes for null mutations. Gain of molecular function can have several mechanistic bases: selectivity changes, gating changes including constitutive
Karschin, Andreas, Lester, Henry A.
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Movement Disorders Clinical Practice, EarlyView.ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan +4 more
wiley +1 more source
THE USE OF TOPIRAMATE FOR EPILEPSY TREATMENT IN CHILDREN
Эпилепсия и пароксизмальные состояния, 2016 : this article contains information about the principles of treatment different forms of epilepsy and a more detailed information about antiepileptic drug - topiramate.
M. R. Kremenchugskaya +2 more
doaj
A prospective observational longitudinal study of new-onset seizures and newly diagnosed epilepsy in dogs [PDF]
, 2016 BACKGROUND: Seizures are common in dogs and can be caused by non-epileptic conditions or epilepsy. The clinical course of newly diagnosed epilepsy is sparsely documented.
Berendt, M. +3 more
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Psychiatric Disorders and Apathy in Mixed Movement Disorders Linked to ADCY5 (MxMD‐ADCY5)
Movement Disorders, EarlyView.Abstract Background Mixed movement disorders linked to ADCY5 (MxMD‐ADCY5) represent a rare hyperkinetic movement disorder resulting from pathogenic variants in ADCY5. Psychiatric symptoms are suspected to be part of the phenotype. Objective The study aim was to assess psychiatric comorbidities in patients with MxMD‐ADCY5.
Aurélie Méneret +23 more
wiley +1 more source
CLINICAL AND GENETIC HETEROGENITY OF JUVENILE MYOCLONIC EPILEPSY
Эпилепсия и пароксизмальные состояния, 2016 The idiopathic generalized epilepsies constitute roughly one-third of all epilepsies. Juvenile myoclonic epilepsy (Janz syndrome) is characterized by myoclonic jerks on awakening, generalized tonic-clonic seizures, and typical absences, with the latter ...
N. A. Shnayder +4 more
doaj +1 more source
Genetics update: monogenetics, polygene disorders and the quest for modifying genes [PDF]
, 2018 The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships.
Symonds, Joseph D., Zuberi, Sameer M.
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Movement Disorders, EarlyView.Abstract Background Serum neurofilament light chain (NfL) levels, a marker of axonal damage, are generally elevated in neurodegenerative conditions, but results in idiopathic Parkinson's disease (iPD) have been inconsistent. The p.A53T SNCA mutation usually leads to a severe form of PD.
Nikolaos Papagiannakis +213 more
wiley +1 more source