Archives of Epilepsy, 2019 Seizures may occur in frontotemporal lobar degeneration syndromes as an element of a heterogeneous group of disorders, according to both clinical phenotype and neuropathology.
Yasemin DİNÇ, Gönül ÇELİK AKDAĞ
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Novel POLG variants associated with late-onset de novo status epilepticus and progressive ataxia [PDF]
, 2017 Mitochondrial disease is phenotypically and genetically heterogeneous with an estimated prevalence of 1 in 4,300.1 Mutations in the POLG gene, encoding the catalytic subunit of DNA polymerase gamma, are an important cause of mitochondrial disease.
Hadjivassiliou, M. +5 more
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A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease [PDF]
, 2016 Mutations in the nuclear gene POLG (encoding the catalytic subunit of DNA polymerase gamma) are an important cause of mitochondrial disease. The most common POLG mutation, A467T, appears to exhibit considerable phenotypic heterogeneity.
Costello, H +12 more
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Pathogenesis, diagnosis and treatment of Rasmussen encephalitis: A European consensus statement [PDF]
, 2017 Rasmussen encephalitis (RE) is a rare but severe immune-mediated brain disorder leading to unilateral hemispheric atrophy, associated progressive neurological dysfunction and intractable seizures.
Antozzi, C. +10 more
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Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease [PDF]
, 2018 In recent years, an increasing number of mitochondrial disorders have been associated with mutations in mitochondrial aminoacyl-tRNA synthetases (mt-aaRSs), which are key enzymes of mitochondrial protein synthesis. Bi-allelic functional variants in VARS2,
Ardissone, Anna +21 more
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Defining the end point of status epilepticus: A scoping review and framework for standardization
Epilepsia, EarlyView.Abstract Status epilepticus (SE) is a life‐threatening neurological emergency with consensus‐driven definitions for onset but no standardized criteria for its end point. This gap creates uncertainty in research and clinical practice. We conducted a scoping review to evaluate how end points have been defined in SE research and to identify key areas of ...
Fawad A. Khan +6 more
wiley +1 more source
Cat Scratch Disease and Epilepsia Partialis Continua
Pediatric Neurology Briefs, 2002 An 18-year-old female young adult with seizures associated with cat scratch disease is reported from Norwalk Hospital, Yale University School of Medicine, CT.
J Gordon Millichap
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Responsive neurostimulation for focal motor status epilepticus
Annals of Clinical and Translational Neurology, 2021 No clear evidence‐based treatment paradigm currently exists for refractory and super‐refractory status epilepticus, which can result in significant mortality and morbidity.
Jimmy C. Yang +12 more
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Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
Non Ketotic Hyperosmolar Hyperglycemia presenting as Epilepsia Partialis Continua.(An unusual presentation of a common disorder) [PDF]
Libyan Journal of Medicine, 2008 We report a patient with epilepsia partialis continua (EPC) associated with non ketotic hyperosmolar hyperglycemia. EPC is an uncommon presentation of nonketotic hyperglycemia.
Kamha A
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