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Epilepsy with eyelid myoclonia in a patient with ATP1A3-related neurologic disorder.
Epileptic Disord
December 2024
Department of Pediatric Epileptology, Functional Neurology and Sleep Disorders, Hôpital Femme Mère Enfant, University Hospitals of Lyon (HCL), Member of ERN EpiCARE, Lyon, France.
Article Synopsis
- An 11-year-old Polish girl experienced episodes of decreased consciousness, paralysis, movement disorders, slurred speech, swallowing difficulties, and abnormal eye movements, but extensive testing did not identify a clear cause.
- Genetic testing revealed a new mutation in the ATP1A3 gene, which has been associated with various neurological disorders, including epilepsy.
- Video-EEG monitoring confirmed non-epileptic causes of her hemidystonia episodes, but also showed signs of a specific type of epilepsy related to her ATP1A3 mutation, highlighting the overlap of symptoms from different ATP1A3-related syndromes.
Paroxysmal hemidystonia as the initial presentation of multiple sclerosis: an illustrative video depicting hyperventilation-triggered dystonia.
Acta Neurol Belg
April 2024
Department of Neurology, University Hospital Reina Sofía, Menéndez Pidal, S/N Av., 14004, Córdoba, Spain.
Novel missense variant in the TMEM151A gene causing paroxysmal kinesigenic dyskinesia: a case report with literature review.
Neurol Sci
April 2023
Department of Neurology, The Second Hospital of Hebei Medical University, 215 Heping West Road, Shijiazhuang, 050000, People's Republic of China.
Background: Paroxysmal kinesigenic dyskinesia (PKD) is a rare movement disorder with high clinical and genetic heterogeneity. Proline-rich transmembrane protein 2 (PRRT2) was identified as the first causative gene for PKD in 2011. Recently, heterozygous variants in transmembrane protein 151A (TMEM151A) were identified as another pathogenic cause of PKD.
View Article and Find Full Text PDFParoxysmal spinal hemidystonia in neuromyelitis optica.
Intern Med J
August 2022
Department of Neurology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Paroxysmal dystonia occurs because of genetic or structural lesion in the basal ganglia or thalamus, and there is paucity of reporting in spinal pathology. We report a patient with paroxysmal hemidystonia admitted to a tertiary care hospital, India, and review the literature on spinal dystonia in neuromyelitis optica (NMO). A 19-year-old woman presented with recurrent visual loss and quadriparesis.
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