Results 141 to 150 of about 11,691 (245)

Unravelling the missing genetic causes of dystonic syndromes using whole exome sequencing

open access: yes, 2022
Les dystonies d’origine génétique forment un groupe de pathologies rares à l’origine de mouvements anormaux et/ou de prises de postures anormales. Le séquençage ciblée d’un panel de gènes de mouvements anormaux permet un diagnostic moléculaire dans moins
Wirth, Thomas
core  

Unveiled SOX2 disorder in a child initially diagnosed as cerebral palsy

open access: yesEgyptian Journal of Medical Human Genetics
Background SOX2 disorder is a genetic disorder caused by disease-causing variants of the SOX2 located on chromosome 3q26.3-q27.1. SOX2 disorder is clinically characterized by severe eye malformations but is also associated with developmental delay ...
Hanee Rim   +4 more
doaj   +1 more source

Structural and Functional Imaging of Motor Outcomes in Twins With Perinatal Stroke: A Case Report

open access: yesAnnals of the Child Neurology Society, Volume 4, Issue 2, Page 150-158, June 2026.
ABSTRACT Background Perinatal arterial ischemic stroke (AIS) affects 1 in 4000 live births. Dystonia, affecting ~20% of children following AIS, is characterized by involuntary muscle contractions and abnormal movements. Why some develop dystonia post AIS, while others do not, remains unclear.
Prisca Hsu   +8 more
wiley   +1 more source

Ictal semiology in lateral temporal epilepsy: A systematic review and meta‐analysis

open access: yesEpileptic Disorders, Volume 28, Issue 3, Page 678-689, June 2026.
Abstract Objective We performed a systematic review of the ictal semiology of the lateral temporal lobe in focal epilepsy aiming to summarize the state‐of‐the‐art anatomo‐clinical correlations in the field and help guide interpretation of ictal semiology within the framework of pre‐surgical evaluation.
Jakob I. Doerrfuss   +2 more
wiley   +1 more source

Combination Versus Monotherapy in Acute Anti‐LGI1 Encephalitis: A Real‐World Dose Optimization Analysis

open access: yesNeuropsychopharmacology Reports, Volume 46, Issue 2, June 2026.
Combined IVIg and 500 mg/day IVMP achieve superior efficacy over monotherapies in anti‐LGI1 encephalitis, with optimal safety. Higher‐dose IVMP (1000 mg) accelerates response but increases adverse events, particularly in diabetic patients. Cognitive deficits persist post‐treatment, necessitating long‐term management.
Yao Tan   +6 more
wiley   +1 more source

Focal Dystonic Tremor as a Prominent Feature in a Child with a CACNA1A‐Related Disorder

open access: yesMovement Disorders Clinical Practice, 2023
Marta Mercati   +6 more
openaire   +2 more sources

Electroconvulsive Therapy for Severe Refractory Tardive Dystonia Without Active Depression: A Case Report

open access: yesNeuropsychopharmacology Reports, Volume 46, Issue 2, June 2026.
Electroconvulsive therapy produced clinically meaningful improvement in severe refractory tardive dystonia without active depression, including recovery of independent ambulation. However, symptom recurrence after discontinuation highlights the potential need for continuation or maintenance strategies.
Tomohiro Asahi   +4 more
wiley   +1 more source

Dispensing of Antiemetics During Pregnancy in Aotearoa New Zealand, 2005–2020

open access: yesAustralian and New Zealand Journal of Obstetrics and Gynaecology, Volume 66, Issue 3, June 2026.
ABSTRACT Background Antiemetic use during pregnancy is rising in high‐income countries. Increasing use of antiemetics has also been documented in Aotearoa New Zealand (NZ); however, the specific antiemetics dispensed have not been reported. Aim To describe patterns of antiemetic dispensing during pregnancy in NZ, 2005–2020.
Sarah Donald   +8 more
wiley   +1 more source

Olfactory dysfunction as a diagnostic and prognostic marker for movement disorders

open access: yesAnnals of Movement Disorders
Olfactory dysfunction (OD) is a common nonmotor symptom observed in several movement disorders. The severity and pattern of olfactory impairment vary among these conditions.
Aliasghar Peyvandi   +7 more
doaj   +1 more source

Tardive Dystonia Described as Tardive Tremor

open access: yes
Journal of General and Family Medicine, Volume 27, Issue 4, July 2026.
Sarah Gaber   +2 more
wiley   +1 more source

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