Ann Mertens, Maria T Papadopoulou, Matthildi Athina Papathanasiou Terzi, Gaëtan Lesca, Mateusz Biela, Robert Smigiel, Eleni Panagiotakaki
We report on an 11 year old Polish girl who experienced paroxysmal episodes with decreased consciousness, (hemi)plegia, movement disorders, slurred speech, dysphagia, and abnormal eye movements. An extensive etiological work-up (brain MRI, EEG, EMG, NCS, toxic, metabolic, infectious, and auto-immune screening) was not conclusive. A genetic analysis with whole-exome sequencing demonstrated a de novo heterozygous mutation in the ATP1A3 gene (c.2232C>G, p.Asn744Lys). A 48 h video-EEG monitoring that was conducted in our unit later confirmed the absence of ictal discharge during an episode of hemidystonia, demonstrating its non-epileptic etiology...
September 5, 2024: Epileptic Disorders: International Epilepsy Journal with Videotape