Results 101 to 110 of about 33,305 (301)
Genetic dissection of the common epilepsies
, 2006 Purpose of reviewOnly two functionally validated susceptibility genes, CACNA1H and GABRD, have so far been identified in the common epilepsies using a candidate gene approach.
Mulley, J. +10 more
core +1 more source
White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian +8 more
wiley +1 more source
Recent progress in the genetics of human epilepsies.
, 1998 Despite several lines of evidence indicating a strong genetic influence in the etiology of idiopathic epilepsies, progress in the mapping and identification of human epilepsy genes has been limited until recently.
Monaco, Anthony, Szepetowski, P
core +1 more source
Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier +6 more
wiley +1 more source
Clinical and epidemiological characteristic of epilepsy in children and teenagers in Tomsk Region
Бюллетень сибирской медицины, 2010 The incidence of epilepsy and epileptic syndromes (number of new cases per year in a given population) in children and teenagers of Tomsk Region was 44.10 per 100 000 people, being higher in children (49.60) as compared to teenagers (27.39).
L. S. Krayeva, V. M. Alifirova
doaj +1 more source
Neonatal Epilepsies and Seizure Evolution
, 1999 The evolution of epileptic syndromes in 75 children with EEG-confirmed epilepsies of neonatal onset was studied at Nagoya University ...
J Gordon Millichap
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Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Down syndrome regression disorder is a syndrome characterized by subacute loss of cognitive, behavioral, and functional abilities in individuals with Down syndrome. Electroencephalography abnormalities are frequently observed during evaluation, but it remains unclear whether these findings represent a dynamic marker of disease ...
Jonathan D. Santoro +14 more
wiley +1 more source
Анналы клинической и экспериментальной неврологии, 2017 To increase efficiency of diagnostics and treatment of epilepsiesepidemiology of epilepsies in the Smolensk region has beenstudied. Prevalence of epilepsy was 1.6:1000 in a children population and 0.9:1000 in an adult population.
N. N. Maslova, N. V. Egorova
doaj +1 more source