KCNQ2 mutations in childhood nonlesional epilepsy: Variable phenotypes and a novel mutation in a case series

ConclusionKCNQ2 ‐related epilepsy led to varied outcomes (from benign to severe) in our patients.KCNQ2 mutations accounted for 13% of patients with seizure onset before 2  months old in our study.KCNQ2 mutations can cause different phenotypes in children. p.(Pro 285Thr) is a novel mutation, and the p.(Pro 285Thr), p.(Ser247Leu), and p.(Thr287Ile) variants can cause neonatal ‐onset epileptic encephalopathy.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

Related Links:

Conclusion: Ensuring that anti-epilepsy drugs remain available in the public sector, and/or making them more affordable in the private sector are the main interventions likely to improve medication adherence in clinical settings such as ours. PMID: 31325256 [PubMed - in process]
Source: Journal of the Association of Physicians of India - Category: General Medicine Tags: J Assoc Physicians India Source Type: research
Conditions:   Epilepsy;   Depression;   Postictal Delirium;   Electroconvulsive Therapy Interventions:   Drug: Paracetamol;   Drug: Nimotop Sponsors:   Rijnstate Hospital;   University of Twente;   Amsterdam University Medical Center Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
(University of Texas at San Antonio) Epileptic seizures happen in one of every 10 people who have experienced a traumatic brain injury (TBI). However, new research at The University of Texas at San Antonio (UTSA) has uncovered an innovative approach to possibly slow the progression of epilepsy. Researchers at UTSA have successfully removed new neurons that have developed after a brain injury to reduce seizures in mice. They believe that the technique could potentially reduce post-injury epilepsy.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
We report that brain activation of TLR3 using the synthetic receptor ligand Poly I:C may also result in remarkable dose- and time-dependent inhibitory effects on acute seizures in mice without inducing inflammation. These inhibitory effects are associated with reduced neuronal excitability in the hippocampus as shown by a decrease in the population spike amplitude of CA1 pyramidal neurons following Schaffer collaterals stimulation.TLR3 activation which results in seizure inhibition does not evoke NF-kB-dependent inflammatory molecules or morphological activation of glia, however, it induces the alternative interferon (IFN)...
Source: Brain, Behavior, and Immunity - Category: Neurology Source Type: research
This study explored the acceptability and feasibility of an MBCT intervention for this group. The data suggests that this intervention could be potentially useful in improving the mental health of this population, and includes suggestions for making the intervention culturally relevant.
Source: Journal of Racial and Ethnic Health Disparities - Category: International Medicine & Public Health Source Type: research
ConclusionDespite the use of AEDs in the majority of patients, only one-third were seizure-free. Other challenges included polypharmacy, the use of valproate in women, and variable adherence. This points to a need for closer follow-up in patients with JME.Graphical abstract
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
Publication date: Available online 19 July 2019Source: Redox BiologyAuthor(s): Tawfeeq Shekh-Ahmad, Andreas Lieb, Stjepana Kovac, Lukas Gola, Christian W. Wigley, Andrey Y. Abramov, Matthew C. WalkerAbstractMany epilepsies are acquired conditions following an insult to the brain such as a prolonged seizure, traumatic brain injury or stroke. The generation of reactive oxygen species (ROS) and induction of oxidative stress are common sequelae of such brain insults and have been shown to contribute to neuronal death and the development of epilepsy. Here, we show that combination therapy targeting the generation of ROS though ...
Source: Redox Biology - Category: Biology Source Type: research
Publication date: August 2019Source: Nutrition, Metabolism and Cardiovascular Diseases, Volume 29, Issue 8Author(s): Cinzia Ferraris, Valentina De Giorgis, Ilaria Brambilla, Monica Guglielmetti, Claudia Trentani, Lara Manea, Ottavia Ferraro, Simona Bertoli, Pierangelo Veggiotti, Anna Tagliabue
Source: Nutrition, Metabolism and Cardiovascular Diseases - Category: Nutrition Source Type: research
ConclusionsOur method is highly accurate, automated and non-parametric providing clinicians another tool that can be used to help identify the epileptogenic zone in patients undergoing the stereo electroencephalography procedure for epilepsy monitoring.
Source: Journal of Neuroscience Methods - Category: Neuroscience Source Type: research
Publication date: Available online 19 July 2019Source: Journal of Clinical NeuroscienceAuthor(s): Lu Yao, Wang Yue, Wu Xunyi, Wang Jianhong, Zhu Guoxing, Hong ZhenAbstractPurposeTo evaluate the clinical characteristics, treatment outcomes, prognosis and potential risk factors of patients in East China with seizure secondary to autoimmune encephalitis.MethodsFrom February 2014 to June 2016, 113 patients diagnosed with autoimmune encephalitis in Huashan Hospital, Fudan University, were enrolled in our study. After at least two years of follow-up, we retrospectively analyzed the patients’ clinical details, electroenceph...
Source: Journal of Clinical Neuroscience - Category: Neuroscience Source Type: research
More News: Children | Epilepsy | Genetics | Pediatrics | Perinatology & Neonatology | Study