Heliyon, 2022 Objective: Estimate sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) of EEG findings: centrotemporal spikes, photoparoxysmal response, asymmetric photic driving, and asymmetric sleep spindles, for epilepsy ...
Mohammed Ashour +6 more
doaj +1 more source
The Overlap between Headache and Epilepsy in the Light of Recent Advances in Medical Genetics [PDF]
, 2014 Not ...
A. Ferretti +2 more
core +1 more source
DNM1 encephalopathy: A new disease of vesicle fission. [PDF]
, 2017 ObjectiveTo evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling ...
Campbell, Colleen A +38 more
core +2 more sources
Analysis of GABRG2 C588T polymorphism in genetic epilepsy and evaluation of GABRG2 in drug treatment
Clinical and Translational Science, 2021 Epilepsy is a common disorder with complex inheritance, and its treatment is very unsatisfactory. An association between the GABRG2 C588T polymorphism and genetic generalized epilepsy has been studied by several genetic association studies.
Shitao Wang +4 more
doaj +1 more source
Whole Genome Sequence Data From Captive Baboons Implicate RBFOX1 in Epileptic Seizure Risk
Frontiers in Genetics, 2021 In this study, we investigate the genetic determinants that underlie epilepsy in a captive baboon pedigree and evaluate the potential suitability of this non-human primate model for understanding the genetic etiology of human epilepsy.
Mark Z. Kos +8 more
doaj +1 more source
Ictal epileptic headache. an old story with courses and appeals [PDF]
, 2012 The term "ictal epileptic headache" has been recently proposed to classify the clinical picture in which headache is the isolated ictal symptom of a seizure.
MARTELLETTI, Paolo +4 more
core +1 more source
Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]
, 2013 Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui +2 more
core +2 more sources
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy. [PDF]
, 2020 Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed a number of monogenic origins and opened the door to therapeutic ...
Alix, E +30 more
core +2 more sources
Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features. [PDF]
, 2016 Purpose:To report atypical presentation of neuronal ceroid lipofuscinoses type 8 (CLN8) to the eye clinic and review clinical features of CLN8. Observations:Detailed eye exam by slit lamp exam, indirect ophthalmoscopy, fundus photography, optical ...
Collins, Christin D +6 more
core +2 more sources
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