Results 31 to 40 of about 33,305 (301)
Neuroimaging in Focal Epilepsies: An Update
, 2015 Epilepsy is a common neurologic disorder with diverse etiologies. Appropriate MRI investigation has an important role in the assessment of epilepsy. Specific protocols are required for recognition of epileptogenic lesions, particularly for recognition of
Vanessa C Mendes COELHO +2 more
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Genetics of Childhood Epilepsy
Pediatric Neurology Briefs, 2000 Genetic epilepsies are classified according to the mechanism of inheritance in three major groups: 1) Mendelian idiopathic epilepsies; 2) Non-Mendelian or “complex” epilepsies; and 3) Chromosomal disorders.
J Gordon Millichap
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Cognitive performance and behavior across idiopathic/genetic epilepsies in children and adolescents
Scientific Reports, 2020 We investigated the cognitive and behavioral profile of three distinct groups of epilepsies with a genetic background for intergroup differences: (1) idiopathic/genetic generalized epilepsies (IGE/GGE group); (2) idiopathic focal epilepsies (IFE group ...
Frederik Jan Moorhouse +9 more
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Epilepsy & Behavior Reports, 2023 Reflex epilepsies are a unique and heterogeneous group of epilepsies characterized by recurrent seizure activity evoked by a specific external sensory stimulus or internal cognitive process.
Eimear Joyce +4 more
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Genetics of the epilepsies [PDF]
, 2013 Purpose of reviewWe aim to review the most recent advances in the field of epilepsy genetics with particular focus on the progress in gene discovery in monogenic epilepsies, identification of risk genes in complex genetic epilepsies and recent findings ...
Lowenstein, Daniel H, Helbig, Ingo
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Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi +2 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background SOX1 antibody‐positive paraneoplastic neurological syndromes (PNS) exhibit significant population‐specific clinical heterogeneity. While Western cohorts predominantly manifest Lambert‐Eaton myasthenic syndrome (65%–80%), comprehensive clinical characterization and treatment response data in Asian populations remain critically ...
Jin‐Long Ye +11 more
wiley +1 more source
Bezmiâlem Science, 2020 Mutations in genes encoding the formation of ion channels may cause epileptic syndromes. These epileptic syndromes are generally divided into generalized and partial epilepsies.
Halil Aziz VELİOĞLU +1 more
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Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Epilepsy and Behavior Case Reports, 2017 Anti-NMDA receptor encephalitis is a treatable autoimmune disease characterized by cognitive, motor and psychiatric features that primarily affects young adults and children. We present a case of a 7-year-old boy with asymmetrical (mainly right hemibody)
Vanessa Benjumea-Cuartas +6 more
doaj +1 more source