Results 171 to 180 of about 26,795 (236)
Lennox–Gastaut syndrome in a patient with biallelic TELO2 variants
Epileptic Disorders, Volume 28, Issue 3, Page 893-896, June 2026.
Melissa Odabassian, Kenneth A. Myers
wiley +1 more source
ABSTRACT Background Anti‐dipeptidyl‐peptidase‐like protein 6 encephalitis (DPPXE) is an exceptionally rare form of autoimmune encephalitis characterized by a highly heterogeneous clinical phenotype. Methods In this study, we report a Chinese patient presenting with severe abdominal pain as a prominent symptom; furthermore, we conducted a systematic ...
Difang Shi +7 more
wiley +1 more source
An 18-fluorodeoxyglucose-PET study in <i>SGCE</i> positive and negative myoclonus-dystonia. [PDF]
Timmers ER +6 more
europepmc +1 more source
Expanding African contributions to ClinVar through genetic counselor‐led variant curation
Abstract Global variant databases such as ClinVar are vital in linking genetic variation to clinical significance and enabling shared interpretation across laboratories. However, African genetic variants remain underrepresented, comprising under 2% of global ClinVar submissions.
Nabeelah Peerbhai +4 more
wiley +1 more source
Effect of oliceridine pretreatment on etomidate-induced myoclonus: a prospective, randomized, double-blind, controlled study. [PDF]
Sun Q +7 more
europepmc +1 more source
ABSTRACT Objective To provide a preliminary symptom‐based and standardized single‐consistency FEES screening assessment of swallowing in adults with Behçet disease using the Eating Assessment Tool‐10 (EAT‐10) and fiberoptic endoscopic evaluation of swallowing (FEES).
Emre Demirel +2 more
wiley +1 more source
Movement Disorders in Scrub Typhus: A Systematic Review. [PDF]
Garg RK +5 more
europepmc +1 more source
ABSTRACT Primary mitochondrial diseases (PMDs) result from genetic variants in nuclear DNA and mitochondrial DNA which commonly lead to aberrant oxidative phosphorylation. The clinical complexity, often attributed to the underlying genetics, includes several distinct syndromes (e.g., Barth syndrome; Pearson syndrome; Mitochondrial encephalomyopathy ...
Sydney Stern +4 more
wiley +1 more source
Chronic lead encephalopathy in an adult: A case report and literature review. [PDF]
Rim T +7 more
europepmc +1 more source
Epileptic Disorders, Volume 28, Issue 3, Page 920-924, June 2026.
Roberta Cutellè +8 more
wiley +1 more source

