Results 81 to 90 of about 781,361 (246)

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +1 more source

A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.

, 2014
IMPORTANCE: Apart from Huntington's disease, little is known of the genetics of autosomal dominant chorea associated with dystonia. Here we identify adenylate cyclase 5 (ADCY5) as a likely new causal gene for early-onset chorea and dystonia. OBSERVATIONS:
Jochem, Pierre, Paul, Nicodème, Carapito, Raphaël, Le Caignec, Cédric, David, Albert, Le Gentil, Marion, Damier, Philippe, Radosavljevic, Mirjana, Ott, Louise, Isidor, Bertrand, Alsaleh, Ghada, Untrau, Meiggie, Bahram, Seiamak   +12 more
core   +1 more source

NMDAR‐antibody encephalitis: Seizure semiology and EEG findings

Epileptic Disorders, EarlyView.
Abstract Background N‐methyl‐D‐aspartate receptor antibody encephalitis (NMDAR‐Ab‐E) is an autoantibody‐mediated disorder, characterized by acute development of neuropsychiatric symptoms, seizures, movement disorders, and autonomic instability. Objectives To describe acute seizure semiology and electroencephalogram (EEG) findings in patients with a ...
Maria Emilia C. Andraus, Bernard Liem, Sidra Aurangzeb, Mkael Symmonds, Adam E. Handel, Sarosh R. Irani, Arjune Sen   +6 more
wiley   +1 more source

Local Field Potential‐Based Programming: A Proof‐of‐Concept Pilot Study

Neuromodulation: Technology at the Neural Interface, EarlyView., 2021
Abstract Objectives Programming deep brain stimulation (DBS) is still based on a trial‐and‐error approach, often becoming a time‐consuming process for both treating physicians and patients. Several strategies have been proposed to streamline DBS programming, most of which are preliminary and mainly address Parkinson's disease, a condition readily ...
Alfonso Fasano, Carolina Gorodetsky, Darcia Paul, Jürgen Germann, Aaron Loh, Han Yan, Peter L. Carlen, Sara Breitbart, Andres M. Lozano, George M. Ibrahim, Suneil K. Kalia   +10 more
wiley   +1 more source

Surgical Myectomy and Myotomy for Refractory Blepharospasm in Meige Syndrome Patients: A Case Report

Clinical Medicine Insights: Case Reports
Meige syndrome is a rare neurological disease characterized by segmental dystonia, specifically blepharospasm and oromandibular dystonia. These symptoms are often accompanied by complex movements of the eyelids, lower facial muscles, mandible, and neck ...
Ming-Ming Li, Zhi-Min Cen, Huang Zhang, Zhong-Ling Luo   +3 more
doaj   +1 more source

Temporomandibular Joint Dysfunction as the First Presentation of Tardive Dystonia: A Case Report [PDF]

Journal of Clinical and Diagnostic Research
Tardive dystonia is a chronic, often disabling hyperkinetic movement disorder that develops after prolonged exposure to dopamine receptor-blocking agents, most commonly antipsychotic medications.
Monisha Seralathan
doaj   +1 more source

Oculogyric Crisis after Initiation of Aripiprazole: A Case Report of an Active Duty Service Member

Case Reports in Psychiatry, 2023
Introduction. Oculogyric crisis is an acute dystonic reaction characterized by sustained, bilateral, and upward deviation of the eyes. It is a relatively uncommon extrapyramidal side effect of antipsychotic medications.
Nicole L. Hadler, Yevin A. Roh, David A. Nissan   +2 more
doaj   +1 more source

Psychological Profile of Patients with Facial Focal Dystonias

European Psychiatry, 2015
Introduction blepharospasm is a focal dystonia of the orbicularis oculi muscles, provoking intermittent or sustained eye closure, sometimes severe enough to cause functional blindness. Basal ganglia connections seem to have a major role in its still largely unknown physiopathology.
R. Passos, S. Varanda, A.S. Costa, P. Morgado, G. Carneiro   +4 more
openaire   +1 more source

Reflex seizures and epilepsy surgery: A network approach case‐based exploration

Epileptic Disorders, EarlyView.
Abstract Context Reflex seizures (RS) are defined by their consistent provocation by specific stimuli, encompassing a broad range from elementary sensory inputs to complex cognitive tasks. While RS are often encountered in clinical practice, their surgical management remains sparsely reported and poorly systematized.
Olivier Aron, Laure Salmon, Nicolas Nguyen, Dènahin Toffa, Sami Obaid, Alexis Robin, Dang Khoa Nguyen   +6 more
wiley   +1 more source

Tyrosine hydroxylase deficiency—Clinical insights and a novel deletion in TH gene in an Indian patient

JIMD Reports, 2020
Tyrosine hydroxylase deficiency is a rare autosomal recessive, treatable disorder of neurotransmission. Fewer than 100 cases have been reported so far. We present a case of a 10‐month‐old infant who was symptomatic since 5 months of age and who received ...
Sunita Bijarnia‐Mahay, Vivek Jain, Beat Thöny   +2 more
doaj   +1 more source