MyMedR

Displaying publications 21 - 40 of 203 in total

Abstract:

Sort:

Perianaesthetic management on a child with Lennox-Gastaut Syndrome for vagus nerve stimulation (VNS) placement

Yeap TB, Koo TH, Ang SY, Ab Mukmin L

BMJ Case Rep, 2023 Nov 27;16(11).
PMID: 38011949 DOI: 10.1136/bcr-2023-255897

Vagus nerve stimulation (VNS) is a neurostimulatory modality in treating patients with medically resistant epilepsy (MRE). It was introduced in 1997 and has been proven to reduce patients' dependency on antiepileptic drugs and seizure frequency. However, the usage of VNS in children with MRE has been limited, especially those with Lennox Gastaut Syndrome (LGS). Our teenage boy with this syndrome developed MRE and successfully underwent VNS placement. We discuss the perianaesthetic challenges, a brief description of VNS and the reported successes in patients with LGS.

Matched MeSH terms: Seizures/therapy
Periodic lateralized epileptiform discharges in neuropsychiatric lupus: association with cerebritis in magnetic resonance imaging and resolution after intravenous immunoglobulin

Lim KS, Cheong KL, Tan CT

Lupus, 2010 May;19(6):748-52.
PMID: 20133346 DOI: 10.1177/0961203309351539

A 13-year-old girl with a known diagnosis of systemic lupus erythematosus presented with seizures and psychosis. An electroencephalogram (EEG) revealed continuous, non-evolving periodic lateralized epileptiform discharges (PLEDs) in the left temporal region, which did not resolve with benzodiazepine. A magnetic resonance imaging (MRI) brain scan demonstrated a focal hyperintensity in the left medial temporal and left occipital lobes, left thalamus and bilateral cerebellar white matter, with evidence of vasculitis in the magnetic resonance angiography. Intravenous immunoglobulin was given because of failed steroid therapy, which resulted in a full resolution of clinical, EEG and MRI abnormalities. Lupus cerebritis should be considered as a possible aetiology in PLEDs, and immunoglobulin can be effective in neuropsychiatric lupus.

Matched MeSH terms: Seizures/drug therapy; Seizures/etiology*; Seizures/physiopathology
Effect of fluoxetine on maximal electroshock seizures in mice: acute vs chronic administration

Raju SS, Noor AR, Gurthu S, Giriyappanavar CR, Acharya SB, Low HC, et al.

Pharmacol Res, 1999 Jun;39(6):451-4.
PMID: 10373242

There are no definite reports regarding the effects of chronic fluoxetine on animal models of epilepsy. Since chronically administered fluoxetine, in comparison to acutely administered fluoxetine has different effects on CNS, the present study was undertaken to investigate the effect of acute and chronic fluoxetine pretreatment, on a median anticonvulsant dose (ED50) of phenytoin in male ICR albino mice. Additionally, the effects of fluoxetine pretreatment on median convulsive current (CC50) in the presence and absence of phenytoin were investigated and results were compared. The maximal electroshock seizure (MES) test was used to estimate the ED50of phenytoin. The electroshock threshold test was used to estimate CC50. ED50and CC50values were calculated by probit analysis. The effects of the chronic and acute fluoxetine groups on the ED50of phenytoin were significantly different (P<0.05), and on CC50this difference was not statistically significant. Chronic fluoxetine insignificantly increased the ED50of phenytoin and decreased the CC50while acute fluoxetine decreased the ED50of phenytoin and increased the CC50. Our results indicate that chronic fluoxetine does not have an antiepileptic property and it may have dubious proconvulsant properties, contrary to acute fluoxetine.

Matched MeSH terms: Seizures/drug therapy*; Seizures/etiology; Seizures/physiopathology
Fulltext Catamenial epilepsy: A missed cause of refractory seizure in young women

Kandeepan J, Shaaban J

Malays Fam Physician, 2016;11(2-3):24-26.
PMID: 28461855 MyJurnal

Catamenial epilepsy refers to changes in the frequency of seizures over the course of the menstrual cycle. A thorough history and detailed review of the patient's seizure diary are imperative to classify the seizures accurately and select the most appropriate antiepileptic treatment. As catamenial epilepsy rarely responds to antiepileptic medications, the physician should regularly revise the treatment plan of the women with epilepsy that is refractory to the current treatment. We describe the case of a 34-year-old single woman who presented with refractory seizures.

Matched MeSH terms: Seizures
Fulltext Gamma-Aminobutyric Acid (GABA) Encephalitis: case report

Mohd Farid Md Yusof, Shalisah Sharip, Suriati Mohamed Saini, Fairuz Nazri Abdul Rahman, Hamid Abdul Rahman, Raihanah Abdul Khalid

International Medical Journal Malaysia, 2017;16(11):52-52.
MyJurnal

A Severe encephalitis with an uncontrolled seizure may produce impairment in a variety
of cognitive functions. The appropriate treatment for cognitive impairment postencephalitisis
are currently unknown. We are reporting a case of depression and cognitive impairment post- encephalitis with an uncontrolled seizure. (Copied from article).

Matched MeSH terms: Seizures
Automated seizure prediction

Acharya UR, Hagiwara Y, Adeli H

Epilepsy Behav, 2018 11;88:251-261.
PMID: 30317059 DOI: 10.1016/j.yebeh.2018.09.030

In the past two decades, significant advances have been made on automated electroencephalogram (EEG)-based diagnosis of epilepsy and seizure detection. A number of innovative algorithms have been introduced that can aid in epilepsy diagnosis with a high degree of accuracy. In recent years, the frontiers of computational epilepsy research have moved to seizure prediction, a more challenging problem. While antiepileptic medication can result in complete seizure freedom in many patients with epilepsy, up to one-third of patients living with epilepsy will have medically intractable epilepsy, where medications reduce seizure frequency but do not completely control seizures. If a seizure can be predicted prior to its clinical manifestation, then there is potential for abortive treatment to be given, either self-administered or via an implanted device administering medication or electrical stimulation. This will have a far-reaching impact on the treatment of epilepsy and patient's quality of life. This paper presents a state-of-the-art review of recent efforts and journal articles on seizure prediction. The technologies developed for epilepsy diagnosis and seizure detection are being adapted and extended for seizure prediction. The paper ends with some novel ideas for seizure prediction using the increasingly ubiquitous machine learning technology, particularly deep neural network machine learning.

Matched MeSH terms: Seizures/diagnosis*; Seizures/physiopathology; Seizures/psychology*
Rapidly progressive dementia with seizures: a post-dengue complication

Mohammed AP, Koraddi A, Prabhu A, Kotian CM, Umakanth S

Trop Doct, 2020 Jan;50(1):81-83.
PMID: 31694475 DOI: 10.1177/0049475519885798

Dengue infection can cause various effects on the central and peripheral nervous systems. Direct neurotropism and immunological mechanisms are responsible for most such neurological manifestations. We present the case of a 64-year-old woman with rapidly progressive dementia with seizures following dengue infection.

Matched MeSH terms: Seizures/drug therapy; Seizures/etiology*; Seizures/physiopathology
Mechanism of Curcuma longa and Its Neuroactive Components for the Management of Epileptic Seizures: A Systematic Review

Choo BKM, Shaikh MF

Curr Neuropharmacol, 2021;19(9):1496-1518.
PMID: 33998991 DOI: 10.2174/1570159X19666210517120413

Curcuma longa (Turmeric) is a tropical herbaceous perennial plant of the family Zingiberaceae and contains curcuminoids, sesquiterpenoids and monoterpenoids as its major components. Given the broad range of activities that Curcuma longa possesses and also its use as a traditional epilepsy remedy, this review attempts to systematically review the experimentally proven activities of Curcuma longa and its bioactive components, which are related to the management of epileptic seizures. Using the PRISMA model, five databases (Google Scholar, PubMed, ScienceDirect, SCOPUS and SpringerLink) were searched using the keywords ["Curcuma longa" AND "Epilepsy"] and ["Curcuma longa" AND "Seizures"], leaving 34 articles that met the inclusion criteria. The present systematic review elaborated on the experimentally proven potential of Curcuma longa components, such as an aqueous extract of Curcuma longa itself, Curcuma longa oil and active constituents like curcuminoids and bisabolene sesquiterpenoids found in Curcuma longa with anti-seizure potential. Using human equivalent dose calculations, human treatment parameters were suggested for each component by analysing the various studies in this review. This review also determined that the principal components possibly exert their anti-seizure effect via the reduction of corticosterone, modulation of neurotransmitters signalling, modulation of sodium ion channels, reduction of oxidative DNA damage, reduction of lipid peroxidation, upgregulation of brain-derived neurotrophic factor (BDNF) and γ-aminobutyric acid (GABA) mediated inhibition. It is anticipated that this review will help pave the way for future research into the development of Curcuma longa and its neuroactive constituents as potential drug candidates for the management of epilepsy.

Matched MeSH terms: Seizures
Fulltext Self-Management Apps for People With Epilepsy: Systematic Analysis

Alzamanan MZ, Lim KS, Akmar Ismail M, Abdul Ghani N

JMIR Mhealth Uhealth, 2021 May 28;9(5):e22489.
PMID: 34047709 DOI: 10.2196/22489

BACKGROUND: Patients with epilepsy (PWEs) are motivated to manage and cope with their disorder themselves (ie, self-management [SM] is encouraged). Mobile health (mHealth) apps have multiple features that have a huge potential to improve SM of individuals with chronic disorders such as epilepsy.
OBJECTIVE: This study aimed to review all freely available apps related to the SM of PWEs and to determine the SM domains covered in these apps.
METHODS: We performed a search of apps on Google Play and App Store using the keywords "epilepsy" or "seizures" from May to August 2018. Apps were included if they were free and in English language. We excluded apps with installation-related issues and not related to epilepsy self-management (eSM).
RESULTS: A total of 22 eSM apps were identified in our search: 6 of these run only on iOS, 7 only on Android, and 9 run on both operating systems. Of the 11 domains of SM, seizure tracking and seizure response features were covered by most apps (n=22 and n=19, respectively), followed by treatment management (n=17) and medication adherence (n=15). Three apps (Epilepsy Journal, Epilepsy Tool Kit, and EpiDiary) were installed more than 10,000 times, with features focused specifically on a few domains (treatment management, medication adherence, health care communication, and seizure tracking). Two apps (Young Epilepsy and E-Epilepsy Inclusion) covered more than 6 SM domains but both had lower installation rates (5000+ and 100+, respectively).
CONCLUSIONS: Both Android and iOS mHealth apps are available to improve SM in epilepsy, but the installation rate of most apps remains low. The SM features of these apps were different from one another, making it difficult to recommend a single app that completely fulfills the needs of PWEs. The common features of the apps evaluated included seizure tracking and seizure response. To improve the efficacy and availability of these apps, we propose the following: (1) involve the stakeholders, such as physicians, pharmacists, and PWEs, during the development of mHealth apps; (2) assess the efficacy and acceptance of the apps objectively by performing a usability analysis; and (3) promote the apps so that they benefit more PWEs.

Matched MeSH terms: Seizures
Artificial neural network based epileptic detection using time-domain and frequency-domain features

Srinivasan V, Eswaran C, Sriraam N

J Med Syst, 2005 Dec;29(6):647-60.
PMID: 16235818

Electroencephalogram (EEG) signal plays an important role in the diagnosis of epilepsy. The long-term EEG recordings of an epileptic patient obtained from the ambulatory recording systems contain a large volume of EEG data. Detection of the epileptic activity requires a time consuming analysis of the entire length of the EEG data by an expert. The traditional methods of analysis being tedious, many automated diagnostic systems for epilepsy have emerged in recent years. This paper discusses an automated diagnostic method for epileptic detection using a special type of recurrent neural network known as Elman network. The experiments are carried out by using time-domain as well as frequency-domain features of the EEG signal. Experimental results show that Elman network yields epileptic detection accuracy rates as high as 99.6% with a single input feature which is better than the results obtained by using other types of neural networks with two and more input features.

Matched MeSH terms: Seizures/physiopathology
Fulltext The incidence of human herpesvirus 6 infection in children with febrile convulsion admitted to the University Hospital, Kuala Lumpur

Chua KB, Lam SK, AbuBakar S, Koh MT, Lee WS

Med J Malaysia, 1997 Dec;52(4):335-41.
PMID: 10968110

From October 1996 to March 1997, 31 children with febrile convulsions were admitted to the University Hospital, Kuala Lumpur. Human Herpesvirus 6 (HHV 6) was virologically and/or serologically confirmed to be the cause of the febrile episode in 5 of these children (16.1%). Age, sex and other associated clinical features (diarrhoea, cough, running nose and type of seizure) were not useful in differentiating cases of febrile convulsion due to HHV 6 from those of other aetiology. However, uvulo-palatoglossal junctional ulcers were noted in children in whom the cause of the seizure could be attributed to HHV 6 but not in the remaining cases in the study group. HHV 6 DNA was detected in peripheral blood mononuclear cells from all patients with febrile convulsions attributed to HHV6, and in patients shown serologically to have already been exposed to the virus by nested polymerase chain reaction amplification. Only genotype HHV 6B was detected from patients with seizure due to HHV 6 but both genotype 6A and 6B were detected in the remaining cases studied.

Matched MeSH terms: Seizures, Febrile/etiology*
Fulltext Eclampsia in Kelantan

Nalliah S, Abdullah AR

Med J Malaysia, 1990 Mar;45(1):49-56.
PMID: 2152069

A review of eclampsia in Kelantan was undertaken from 1983-1988. There were 146 documented cases in the state (66 per 100,000 deliveries). Eight maternal deaths occurred. Sixty seven (45.9%) were primigravida. Six of the 79 multiparous women developed eclampsia for the first time following remarriages to new partners. The multisystem dysfunction resulting from eclampsia resulted in varied maternal complications. Fatal cerebral haemorrhage (3 cases), acute pulmonary oedema (8 cases), acute renal failure (6 cases), HELLP Syndrome (8 cases) and acute abruptio placentae were the commoner complications. The average number of convulsions per patient was 1.3. The mean gestation of mothers who delivered prematurely (28.2%) was 34.6 weeks and that for those at term (71.8%) was 39.1 weeks. The caesarean section rate was 42.5%. The perinatal mortality rate was 185.9 per 1000. The implications of this high maternal and fetal mortality and morbidity are discussed in the light of the health delivery system and patient education. A team approach to medical management of eclampsia with the need for intensive care monitoring is suggested.

Matched MeSH terms: Seizures/etiology
Effective management of long Q-T syndrome with amiodarone

Gururaj AK, Ainon S

J Singapore Paediatr Soc, 1990;32(1-2):50-2.
PMID: 2259197

It is well known that episodic loss of consciousness and convulsions may have a cardiac rather than a cerebral origin (1). We report a case where these episodes were caused by recurrent ventricular tachycardia/ventricular fibrillation secondary to idiopathic long QT syndrome which was effectively treated with amiodarone.

Matched MeSH terms: Seizures/etiology
Clinical characteristics and outcome of children with febrile convulsions

Abdul Wahab Jantan, Zabidi Azhar Mohd Husin

Malaysian Journal of Child Health, 1997;9(1):73-82.
MyJurnal

Objective: The clinical characteristics and out-come offebrile convulsions in children admitted to the University Hospital in Kubang Kerian were analysed in this retrospective study.

Method: The medical records of 244 children aged between 6 months to 5 years who presented with their first convulsions between January 1989 to December 1990 were reviewed. Patients were followed till one year after their first febrile convulsions.

Results: The mean age of presentation was 18.26 (s.d. 11.83) months. One hundred and thirty (54.5%) were males. Complex febrile convulsions were noted in 47.5% and simple febrile convulsions in 52.5%. Seventy-two children (29.5%) were less than one year old at the time offirst febrile convulsions. A family history offebrile convulsions was significantly higher in the complexfebrile convulsions group. Ten children (4.1%) presented with prolonged first febrile convulsions. Data on 117 children on follow-up were available for analysis. Recurrence of febrile convulsions occurred in fifty children (46.7%) with mean interval of 6.53 (s.d. 5.25) months. There was significant difference in children who presented with febrile convulsions at age of less than one year old and having family history offebrile convulsions with regard to recurrence. Three children developed epilepsy at a mean age of 31.56 months. Identifiable causes of febrile convulsions were upper respiratory infection, presumed viral infection (fever with rashes) and acute gastro-enteritis. Laboratory investiga-tions that were done were not helpful.

Conclusions: Children with a family history of febrile convulsions were more likely to develop complex febrile convulsions. Routine investi-gations were rarely helpful. The recurrence rate is significantly influenced by the age of presentation and family history of febrile convulsions in siblings or either parent. The types offebrile convulsions did not significantly influence the recurrent rate.

Matched MeSH terms: Seizures, Febrile; Seizures
Pharmacological Activity of Pyrazole Derivatives as an Anticonvulsant for Benefit against Epilepsy

Gao M, Qu K, Zhang W, Wang X

Neuroimmunomodulation, 2021;28(2):90-98.
PMID: 33774633 DOI: 10.1159/000513297

INTRODUCTION: Pediatric patients with epilepsy are prone to cognitive impairments during growth and long-term use of most antiepileptic drugs (AED). The affected children do not respond to conventional AED and may require novel drugs to manage the disease. Valproic acid, a first-line drug to treat epilepsy, is associated with serious side effects, which precludes its wider use. Thus, in the present study, we intended to develop novel substituted pyrazoles.
METHODS: The molecules were tested for anticonvulsive activity in Swiss albino mice via maximal electroshock seizure and subcutaneous pentylenetetrazole assays. The most potent molecule among the class was further assayed for its effect on behavioral and CNS depressant activity. The effect of the most potent compounds was also analyzed on various indices of oxidative stress and inflammation in mice.
RESULTS: The designed compounds showed significant anticonvulsive activity in mice revealing 7h as the most potent anticonvulsive agent. The most potent anticonvulsant molecule 7h further showed no behavioral alteration and considerable CNS depressant activity. It also reduces the level of oxidative stress and inflammation in the mice.
CONCLUSION: Our study demonstrated utility of pyrazole derivatives as anticonvulsants against epilepsy.

Matched MeSH terms: Seizures/chemically induced
Elucidating the Potential Side Effects of Current Anti-Seizure Drugs for Epilepsy

Akyüz E, Köklü B, Ozenen C, Arulsamy A, Shaikh MF

Curr Neuropharmacol, 2021;19(11):1865-1883.
PMID: 34525933 DOI: 10.2174/1570159X19666210826125341

Over the decades, various interventions have been developed and utilized to treat epilepsy. However, the majority of epileptic patients are often first prescribed anti-epileptic drugs (AED), now known as anti-seizure drugs (ASD), as the first line of defense to suppress their seizures and regain their quality of life. ASDs exert their anti-convulsant effects through various mechanisms of action, including regulation of ion channels, blocking glutamate-mediated stimulating neurotransmitter interaction, and enhancing the inhibitory GABA transmission. About one-third of epileptic patients are often resistant to anti-convulsant drugs, while others develop numerous side effects, which may lead to treatment discontinuation and further deterioration of quality of life. Common side effects of ASDs include headache, nausea and dizziness. However, more adverse effects, such as auditory and visual problems, skin problems, liver dysfunction, pancreatitis and kidney disorders may also be witnessed. Some ASDs may even result in life-threatening conditions as well as serious abnormalities, especially in patients with comorbidities and in pregnant women. Nevertheless, some clinicians had observed a reduction in the development of side effects post individualized ASD treatment. This suggests that a careful and well-informed ASD recommendation to patients may be crucial for an effective and side-effect-free control of their seizures. Therefore, this review aimed to elucidate the anticonvulsant effects of ASDs as well as their side effect profile by discussing their mechanism of action and reported adverse effects based on clinical and preclinical studies, thereby providing clinicians with a greater understanding of the safety of current ASDs.

Matched MeSH terms: Seizures/drug therapy
Fulltext More than a drug target: Purinergic signalling as a source for diagnostic tools in epilepsy

Wong ZW, Engel T

Neuropharmacology, 2023 Jan 01;222:109303.
PMID: 36309046 DOI: 10.1016/j.neuropharm.2022.109303

Epilepsy is one of the most common and disabling chronic neurological diseases affecting people of all ages. Major challenges of epilepsy management include the persistently high percentage of drug-refractoriness among patients, the absence of disease-modifying treatments, and its diagnosis and prognosis. To date, long-term video-electroencephalogram (EEG) recordings remain the gold standard for an epilepsy diagnosis. However, this is very costly, has low throughput, and in some instances has very limited availability. Therefore, much effort is put into the search for non-invasive diagnostic tests. Purinergic signalling, via extracellularly released adenosine triphosphate (ATP), is gaining increasing traction as a therapeutic strategy for epilepsy treatment which is supported by evidence from both experimental models and patients. This includes in particular the ionotropic P2X7 receptor. Besides that, other components from the ATPergic signalling cascade such as the metabotropic P2Y receptors (e.g., P2Y1 receptor) and ATP-release channels (e.g., pannexin-1), have also been shown to contribute to seizures and epilepsy. In addition to the therapeutic potential of purinergic signalling, emerging evidence has also shown its potential as a diagnostic tool. Following seizures and epilepsy, the concentration of purines in the blood and the expression of different compounds of the purinergic signalling cascade are significantly altered. Herein, this review will provide a detailed discussion of recent findings on the diagnostic potential of purinergic signalling for epilepsy management and the prospect of translating it for clinical application. This article is part of the Special Issue on 'Purinergic Signaling: 50 years'.

Matched MeSH terms: Seizures/metabolism
Fulltext Lumbar puncture refusal in febrile convulsion

Ling SG, Boey CC

Singapore Med J, 2000 Oct;41(10):485-8.
PMID: 11281439

A descriptive study was carried out on patients admitted for febrile convulsion over a two-year period to determine rate of lumbar puncture (LP) refusal, factors associated with LP refusal and outcome of such patients. From 77 patients indicated and requested for LP, 19 (25%) patients refused the procedure. Refusal of LP was significantly more common among the Malay ethnic group (p = 0.01) but not significantly associated with age,gender or whether the patient was admitted for a first or recurrent febrile convulsion. Half of the patients who refused LP had to be started empirically on antibiotics for meningitis. Patients who refused LP were also 8.5 times more likely to discharge themselves "at own risk" (AOR), compared to other patients with febrile convulsion (p = 0.004). In conclusion, LP refusal is a common problem in the local setting and is a hindrance to the proper management of patients with fever and seizure. Appropriate measures must be carried out to educate the public, particularly those from the Malay ethnic group on the safety and usefulness of the procedure. Reasons for patients discharging AOR following LP refusal also need to be addressed and problems rectified.

Matched MeSH terms: Seizures, Febrile/therapy*
Differential impact of a ghrelin receptor antagonist or inverse agonist in the electrical kindling model of epilepsy

Beheshti S, Ershadi S, Zamani F, Azimzadeh M, Wesal MW

Epilepsy Res, 2023 Nov;197:107234.
PMID: 37793283 DOI: 10.1016/j.eplepsyres.2023.107234

Ghrelin is a peptide, which has been shown to affect seizures. However, there is not a consensus about its real impact on the control of seizure severity. We assessed the influence of intra-amygdala injections of a ghrelin receptor (GHSR) antagonist, as well as a GHSR inverse agonist on the electrical kindling-induced seizures. Two unipolar electrodes and a tripolar electrode twisted with a guide cannula were implanted in the skull surface or the basolateral amygdala of adult male rats, respectively. A rapid electrical kindling protocol was applied for kindling epileptogenesis. The stimulations were applied until rats showed three consecutive stage five seizures. Each rat was considered as its control. D-Lys-3-GHRP-6 (1, 12.5, and 25 μg/rat) or [D-Arg, D-phe, D-Trp, heu] substance P (D-SP) (50, 500 and 5000 ng/rat) as the GHSR antagonist or inverse agonist were injected into the basolateral amygdala. Seizure parameters including after-discharge duration (ADD), stage five duration (S5D), and seizure stage (SS) were documented thirty minutes following administration of the drugs or saline. Antagonism of the GHSR in the amygdala, significantly increased seizure induction in the kindled rats, in a dose-dependent manner, and induced spontaneous seizures leading to status epilepticus. Conversely, D-SP had a dose-dependent anticonvulsant activity, indicated by decreased ADD and S5D. The results show that GHSR inverse agonism suppressed seizure severity in the rat amygdala kindling model, whereas GHSR antagonism made seizures more severe. Therefore, when considering the ghrelin system to modulate seizures, it is crucial to note the differential impact of various GHSR ligands.

Matched MeSH terms: Seizures/drug therapy
Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures

Nakashima M, Tohyama J, Nakagawa E, Watanabe Y, Siew CG, Kwong CS, et al.

J Hum Genet, 2019 Apr;64(4):313-322.
PMID: 30655572 DOI: 10.1038/s10038-018-0559-z

Casein kinase 2 (CK2) is a serine threonine kinase ubiquitously expressed in eukaryotic cells and involved in various cellular processes. In recent studies, de novo variants in CSNK2A1 and CSNK2B, which encode the subunits of CK2, have been identified in individuals with intellectual disability syndrome. In this study, we describe four patients with neurodevelopmental disorders possessing de novo variants in CSNK2A1 or CSNK2B. Using whole-exome sequencing, we detected two de novo variants in CSNK2A1 in two unrelated Japanese patients, a novel variant c.571C>T, p.(Arg191*) and a recurrent variant c.593A>G, p.(Lys198Arg), and two novel de novo variants in CSNK2B in Japanese and Malaysian patients, c.494A>G, p.(His165Arg) and c.533_534insGT, p.(Pro179Tyrfs*49), respectively. All four patients showed mild to profound intellectual disabilities, developmental delays, and various types of seizures. This and previous studies have found a total of 20 CSNK2A1 variants in 28 individuals with syndromic intellectual disability. The hotspot variant c.593A>G, p.(Lys198Arg) was found in eight of 28 patients. Meanwhile, only five CSNK2B variants were identified in five individuals with neurodevelopmental disorders. We reviewed the previous literature to verify the phenotypic spectrum of CSNK2A1- and CSNK2B-related syndromes.

Matched MeSH terms: Seizures/complications; Seizures/genetics*; Seizures/physiopathology

Filters

Please provide feedback to Administrator (afdal@afpm.org.my)

External Links