Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype

This report illustrates that a spectrum of disorders with distinct clinical symptoms may result from mutations in different parts ofKCNJ10, a gene initially associated only with the EAST/SeSAME syndrome.
Source: Neurogenetics - Category: Genetics & Stem Cells Source Type: research

Related Links:

Authors: Schep LJ, Slaughter RJ, Glue P, Gee P Abstract Cannabis is one of the most widely used recreational drugs in the world. Tetrahydrocannabinol (THC) is the psychoactive principal constituent of the cannabis plant (Cannabis sativa). It is taken either orally or by inhalation, resulting in sedation, euphoria, relaxation and loss of social inhibition. Adverse effects from higher doses can include fear, distrust and a profound state of unease, hallucinations, ataxia, stupor and seizures. Long-term use can result in respiratory and cardiovascular toxicity and has been associated with a range of psychiatric condit...
Source: New Zealand Medical Journal - Category: General Medicine Tags: N Z Med J Source Type: research
Publication date: Available online 10 October 2020Source: Academic PediatricsAuthor(s): Bonnie Crume
Source: Academic Pediatrics - Category: Pediatrics Source Type: research
Authors: Kim JS, Hong SH, Kim WS PMID: 33029988 [PubMed]
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
CONCLUSIONS: In addition to bilateral HA, CNS infection alone was not a poor prognostic factor for the CNS infection-related epilepsy with HA group compared with the conventional MTLE with HA group. Based on these negative results, HA is a plausible and relevant lesion with similar clinical characteristics to HA in patients with conventional MTLE. Therefore, CNS infection-related MTLE with isolated HA might represent another subtype of MTLE with HA with a different etiology. PMID: 33029977 [PubMed]
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
CONCLUSIONS: Subcortical gray-matter structures are involved in the neurodegenerative process of ALS before cognitive impairment becomes evident. PMID: 33029965 [PubMed]
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
Authors: Kim EH, Shim WH, Lee JS, Yoon HM, Ko TS, Yum MS Abstract BACKGROUND AND PURPOSE: Recent quantitative neuroimaging studies of childhood absence epilepsy (CAE) have identified various structural abnormalities that might be involved in the onset of absence seizure and associated cognitive and behavioral functions. However, the neuroanatomical alterations specific to CAE remain unclear, and so this study investigated the regional alterations of brain structures associated with newly diagnosed CAE. METHODS: Surface and volumetric magnetic resonance imaging data of patients with newly diagnosed CAE (n=18) an...
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
Authors: Seo JG, Cho YW, Kim KT, Kim DW, Yang KI, Lee ST, Byun JI, No YJ, Kang KW, Kim D, Drug Committee of Korean Epilepsy Society Abstract The incidence and prevalence of epilepsy are highest in elderly people, and the etiologies of epilepsy in the elderly differ from those in other age groups. Moreover, diagnosing and treating epilepsy in elderly people may be challenging due to differences in clinical characteristics and physiological changes associated with aging. This review focuses on the pharmacological treatment of epilepsy in elderly patients. PMID: 33029960 [PubMed]
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
Authors: Kim H, Kim DW, Lee ST, Byun JI, Seo JG, No YJ, Kang KW, Kim D, Kim KT, Cho YW, Yang KI, Drug Committee of Korean Epilepsy Society Abstract Epilepsy is a common neurological disorder that is mainly treated using antiepileptic drugs. Several antiepileptic drugs such as phenobarbital, phenytoin, primidone, and ethosuximide were developed in the early 20th century. More than 10 types of antiepileptic drugs have been developed since the 1990s, and there are now more than 20 antiepileptic drugs in active clinical use. The choice of antiepileptic drugs is based on the clinical features of the seizure types, elect...
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
Authors: Jang Y, Kim DW, Yang KI, Byun JI, Seo JG, No YJ, Kang KW, Kim D, Kim KT, Cho YW, Lee ST, Drug Committee of Korean Epilepsy Society Abstract Autoimmune epilepsy is a newly emerging area of epilepsy. The concept of "autoimmune" as an etiology has recently been revisited thanks to advances in autoimmune encephalitis and precision medicine with immunotherapies. Autoimmune epilepsy presents with specific clinical manifestations, and various diagnostic approaches including cerebrospinal fluid analysis, neuroimaging, and autoantibody tests are essential for its differential diagnosis. The diagnosis is o...
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
Abstract EAST (Epilepsy, Ataxia, Sensorineural deafness, Tubulopathy) or SeSAME (Seizures, Sensorineural deafness, Ataxia, Mental retardation, and Electrolyte imbalance) syndrome is a rare autosomal recessive syndrome first described in 2009 independently by Bockenhauer and Scholl. It is caused by mutations in KCNJ10, which encodes Kir4.1, an inwardly rectifying K+ channel found in the brain, inner ear, kidney and eye. To date, 16 mutations in at least 28 patients have been reported. In this paper, we review mutations causing EAST/SeSAME syndrome, clinical manifestations in detail, and efficacy of treatment in pre...
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research
More News: Ataxia | Audiology | Brain | Deafness | Disability | Epilepsy | Genetics | Neurology | Potassium | Sodium Chloride | Urology & Nephrology