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PAK3 pathogenic variant associated with sleep-related hypermotor epilepsy in a family with parental mosaicism.
Epilepsia Open
January 2025
Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Protein-activated kinases mediate spine morphogenesis and synaptic plasticity. PAK3 is part of the p21-activated kinases (PAKs) family of Ras-signaling serine/threonine kinases. Pathogenic variants in the X-linked gene PAK3 have been described in patients with neurodevelopmental syndromes.
View Article and Find Full Text PDFSleep-related hypermotor seizures originating from the occipital lobe.
Epileptic Disord
December 2024
Department of Neurology, Duke Comprehensive Epilepsy Center, Durham, North Carolina, USA.
Article Synopsis
- The study presents two cases of sleep-related hypermotor epilepsy (SHE) linked to the occipital lobe in young females who experienced frequent sleep seizures and occasional tonic-clonic seizures with hypermotor movements.
- SEEG monitoring revealed an epileptogenic zone in the occipital lobe, highlighting that most seizures occurred during NREM sleep.
- This research suggests that occipital lobe seizures should be considered in diagnosing SHE, particularly when there are unique symptoms like visual aura and delayed motor responses.
Pearls & Oy-sters: Exquisite Response of Sleep-Related Hypermotor Epilepsy to a Nicotine Patch.
Neurology
October 2024
From the Department of Neurology and Neurological Sciences, Stanford University, CA.
Article Synopsis
- Sleep-related hypermotor epilepsy (SHE) involves brief seizures that start and stop suddenly, mainly occurring during sleep, and can be hard to differentiate from other conditions like psychogenic seizures or sleep disorders.
- About 30% of SHE cases don't respond to medication, and it accounts for roughly 10% of drug-resistant epilepsy cases.
- In a case study of a 23-year-old man with SHE who didn't have known genetic issues, it was found that nicotine patches significantly reduced his seizures, indicating a possible new way nicotine may help manage this condition.
Epilepsies.
Handb Clin Neurol
August 2024
Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom; National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom.
Recent advances in genetic diagnosis have revealed the underlying etiology of many epilepsies and have identified pathogenic, causative variants in numerous ion and ligand-gated channel genes. This chapter describes the clinical presentations of epilepsy associated with different channelopathies including classic electroclinical syndromes and emerging gene-specific phenotypes. Also discussed are the archetypal epilepsy channelopathy, SCN1A-Dravet syndrome, considering the expanding phenotype.
View Article and Find Full Text PDFEfficacy of anti-seizure medications and alternative therapies (ketogenic diet, CBD, and quinidine) in KCNT1-related epilepsy: A systematic review.
Epilepsia Open
August 2024
Reference Center for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades Hospital, APHP, Member of EPICARE, Université Paris Cité, Paris, France.
Objective: KCNT1-related epilepsies encompass three main phenotypes: (i) epilepsy of infancy with migrating focal seizures (EIMFS), (ii) autosomal dominant or sporadic sleep-related hypermotor epilepsy [(AD)SHE], and (iii) different types of developmental and epileptic encephalopathies (DEE). Many patients present with drug-resistant seizures and global developmental delays. In addition to conventional anti-seizure medications (ASM), multiple alternative therapies have been tested including the ketogenic diet (KD), cannabidiol (CBD-including Epidyolex © and other CBD derivatives) and quinidine (QUIN).
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