Results 31 to 40 of about 5,991 (177)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
A case of Dravet syndrome with focal cortical myoclonus
Acta Epileptologica, 2022 Background Dravet syndrome (DS) is a severe epileptic encephalopathy in children dominated by polymorphic seizures. Focal cortical myoclonus indicated on conventional electroencephalogram (EEG) was rarely observed in DS. Case presentation The child, boy,
Xiaoqing Luo, Xiaolu Wang, Jun Jiang
doaj +1 more source
Epileptic Disorders, EarlyView.Abstract Objective To assess informed acceptance and perceptions of the 2025 update of the International League Against Epilepsy (ILAE) seizure classification—after participants had received a focused educational introduction to the updated classification. Methods We analyzed anonymized live poll responses from two educational webinars dedicated to the
Sándor Beniczky +6 more
wiley +1 more source
Pakistan Armed Forces Medical JournalObjective: To determine the clinical and electroencephalographic features in juvenile myoclonic epilepsy (JME) patients Study Design: Prospective longitudinal study.
Fawad Ahmad +5 more
doaj +1 more source
Spinal myoclonus: report of four cases
Arquivos de Neuro-Psiquiatria, 1993 Four cases of spinal myoclonus are described, three males and one female. The mean age was 51 years (28-75 years). The mean time between the onset of the myelopathy and the myoclonic jerks was 4.3 months (1-8 months).
James Pitágoras de Mattos +3 more
doaj +1 more source
Neurology and Therapy, 2020 Introduction Myoclonus-dystonia is an inherited disorder characterized by a combination of myoclonic jerks and dystonia. Mutations in the epsilon-sarcoglycan gene (SGCE) represent the main known genetic cause.
Valentina Besa Lehmann +4 more
doaj +1 more source
Frontiers in Nutrition, 2023 IntroductionSub-acute sclerosing panencephalitis (SSPE) is a chronic, progressive neurodegenerative disorder, commonly seen in measles-endemic countries leading to progressive neuronal loss and death.
Shahnaz H. Ibrahim, Hira Farooq
doaj +1 more source
EEG Patterns Orienting to Lafora Disease Diagnosis—A Case Report in Two Beagles
Frontiers in Veterinary Science, 2020 Lafora Disease (LD) is a rare, fatal, late-onset, progressive form of myoclonic epilepsy, occurring in humans and dogs. Clinical manifestations of LD usually include seizures, spontaneous and reflex myoclonus with contractions of the neck and limb ...
Helga Demeny +4 more
doaj +1 more source
Subacute Sclerosing Panencephalitis Presenting with Unilateral Periodic Myoclonic Jerks [PDF]
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 2003 Background:Subacute sclerosing panencephalitis (SSPE) is a rare complication of measles virus infection. The disease is characterized by behavioural abnormalities, intellectual deterioration, motor weakness, and generalized myoclonic jerks progressing to coma and death in one to two years in 80% of the cases.
Zaitoon M, Shivji +3 more
openaire +2 more sources
Exploring the efficacy and safety of perampanel in epilepsia partialis continua: A case series
Epileptic Disorders, EarlyView.Abstract Background Epilepsia partialis continua (EPC) is a form of focal motor status epilepticus (SE), which is commonly drug‐resistant requiring treatment with multiple antiseizure medications (ASM). There are no established guidelines for pharmacological management.
Setareh Lahsaee +3 more
wiley +1 more source