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Annals of Indian Academy of Neurology
Scopus
ISSN 0972-2327 · Wolters Kluwer Medknow Publications · 3.525 artikel di indeks
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Artikel Jurnal
Case Report of Andersen–Tawil Syndrome: Rare Presentation of a Rare Disease
Andersen–Tawil syndrome (ATS) is a rare genetic disorder characterized by a triad of periodic paralysis, cardiac arrhythmias, and dysmorphic features, typically presenting in the first two decades of life. A 45-year-old man presented with acute lower motor neuron-type quadriparesis. He reported…
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Artikel Jurnal
Familial Dystonia Due to Homozygous TPI1 c.718G>A (p.Glu240Lys): A Three-Sibling Case Series Including Two Treated with Deep Brain Stimulation of the Globus Pallidus Internus
Triosephosphate isomerase (TPI) deficiency is a rare autosomal recessive disorder caused by mutations in the TPI1 gene, typically presenting with anemia, infections, and neurological decline. We report three siblings with a homozygous c.718G>A (p.Glu240Lys) variant presenting predominantly with…
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Artikel Jurnal
Ictal Bruxism - A Sign of Temporal Lobe Ictal Localization: A Case Series
Ictal bruxism (IB) is a rare oro-alimentary automatism in focal seizures. We report a series of six patients with IB in drug-resistant temporal lobe epilepsy (TLE) treated subsequently with temporal lobectomy. All patients had ictal teeth grinding with semiological features, suggestive of temporal…
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