منابع مشابه
Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder.
OBJECTIVES Mutations in GNAO1 have been described in 11 patients to date. Although most of these individuals had epileptic encephalopathy, four patients had a severe movement disorder as the prominent feature. We describe the largest series of patients with de novoGNAO1 mutations who have severe chorea, developmental delay, and hypotonia in the absence of epilepsy. METHODS Six patients with r...
متن کاملEpileptic encephalopathy, movement disorder, and the yin and yang of GNAO1 function.
GNAO1 encephalopathy comprises a spectrum of neurologic phenotypes that result from de novo heterozygous mutations in GNAO1, a gene coding for the subunit of a G protein that is highly expressed in the CNS and is involved in second messenger signaling. De novo heterozygous mutations in the gene were first described in patients with a severe, infantile-onset epileptic encephalopathy known as Oht...
متن کاملGNAO1 encephalopathy
Objective: To describe better the motor phenotype, molecular genetic features, and clinical course of GNAO1-related disease. Methods: We reviewed clinical information, video recordings, and neuroimaging of a newly identified cohort of 7 patients with de novo missense and splice site GNAO1 mutations, detected by next-generation sequencing techniques. Results: Patients first presented in early ch...
متن کاملMovement disorder emergencies.
Movement disorders may present acutely, and failure to recognize and exclude important differential diagnoses can result in significant morbidity or mortality. Unfortunately, much of the literature pertaining to this topic is scattered and not easily accessible. This review aims to address this deficit. Movement disorder emergencies are discussed according to their most likely mode of presentat...
متن کاملMovement Disorder Emergencies
Movement disorders are neurologic disorders characterized by inadequate voluntary movements (hypokinetic) or presence of abnormal involuntary movements (hyperkinetic). Management of either type of movement disorders is mainly outpatient-based . Movement disorder emergencies are conditions evolving over hours to days , in which failure to diagnose and manage promptly can result in significant mo...
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ژورنال
عنوان ژورنال: Movement Disorders Clinical Practice
سال: 2016
ISSN: 2330-1619
DOI: 10.1002/mdc3.12344