Results 31 to 40 of about 6,575 (206)

Juvenile myoclonic epilepsy in an elderly patient [PDF]

open access: yes, 2006
Juvenile myoclonic epilepsy constitutes 5-10% of idiopathic generalised epileptic syndromes. The clinical triad of absence seizures, myoclonic jerks and generalised tonic clonic seizures (GTCS) rarely begin after the second decade of life. We present the
Jacob, Saiju; id_orcid   +2 more
core   +1 more source

Myoclonic Epilepsy: Case Report of a Mild Phenotype in a Pediatric Patient Expanding Clinical Spectrum of KCNA2 Pathogenic Variants

open access: yesFrontiers in Neurology, 2022
We report on the rare case of a male toddler presenting with myoclonic epilepsy characterized by daily episodes of upward movements of the eyebrows, and myoclonic jerks of both head and upper limbs.
Lorenzo Perilli   +8 more
doaj   +1 more source

Reflex Epilepsy Induced by “Soroban”, A Japanese Calculator

open access: yesPediatric Neurology Briefs, 1991
Three patients with reflex epilepsy and myoclonic jerks of the right arm and fingers precipitated by calculation using a Soroban are reported from the Department of Neuropsychiatry, Osaka University Medical School, Fukushima-ku, Osaka, Japan.
J Gordon Millichap
doaj   +1 more source

Juvenile myoclonic epilepsy: Under-diagnosed syndrome [PDF]

open access: yes, 2011
Introduction. Juvenile myoclonic epilepsy is an idiopathic, hereditary form of epilepsy. Although juvenile myoclonic epilepsy is a well defined clinical syndrome, attempts at diagnosing it commonly fail. Etiopathogenesis.
Ksenija Bozic   +4 more
core   +1 more source

Atypical Adult-Onset Subacute Sclerosing Panencephalitis

open access: yesActa Clinica Croatica, 2020
Although subacute sclerosing panencephalitis is almost exclusively a childhood disease, it can occur in adults as well. We present an atypical case of adult-onset subacute sclerosing panencephalitis.
Lorna Stemberger Marić   +5 more
doaj   +1 more source

Safe and effective implantation and use of vagal nerve stimulation in new-onset refractory status epilepticus in early pregnancy: a case report

open access: yesFrontiers in Neurology, 2023
IntroductionThe management of new-onset refractory status epilepticus (NORSE) in pregnancy may be complicated by anti-seizure medication (ASM) polytherapy-associated teratogenicity. We aim to demonstrate the safety and efficacy of vagal nerve stimulation
Malaika Jindal   +7 more
doaj   +1 more source

MYOCLONIC EPILEPSY OF LATE-ONSET IN TRISOMY-21 [PDF]

open access: yes, 1995
We report the case of a patient with trisomy 21 (T21) with late onset epilepsy. The electroclinical features were of myoclonic jerks on awakening and generalised tonic clonic seizures, with generalised spike and wave on EEG, and a progressive dementia ...
Lm. Li   +5 more
core   +1 more source

Periodic electroencephalogram discharges in a case of Lafora body disease: An unusual finding

open access: yesAnnals of Indian Academy of Neurology, 2016
Lafora body disease (LBD) is a form of progressive myoclonic epilepsy, characterized by seizures, myoclonic jerks, cognitive decline, ataxia, and intracellular polyglucosan inclusion bodies (Lafora bodies) in the neurons, heart, skeletal muscle, liver ...
Rajendra Singh Jain   +3 more
doaj   +1 more source

A case of Dravet syndrome with focal cortical myoclonus

open access: yesActa 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

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

open access: yesAnnals 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

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