Displaying publications 61 - 80 of 203 in total

Abstract:
Sort:
  1. Fong CY, Chang WM, Kong AN, Rithauddin AM, Khoo TB, Ong LC
    Epilepsy Behav, 2018 03;80:15-20.
    PMID: 29396357 DOI: 10.1016/j.yebeh.2017.12.032
    BACKGROUND: Children with epilepsy (CWE) are at risk of impaired quality of life (QOL), and achieving a good QOL is an important treatment goal among CWE. To date, there are no published multiethnic QOL studies in Asia. Our study aimed to: i) investigate the QOL of multiethnic CWE in Malaysia as reported by both the child and parent; ii) determine the level of agreement between child-self report and parent-proxy report QOL; and iii) explore potential correlates of sociodemographic, epilepsy characteristics, and family functioning with QOL in CWE.

    METHODS: Cross-sectional study of all CWE aged 8-18years old with at least 6months' duration of epilepsy, minimum reading level of primary school education Year 1, and attending mainstream education. Quality of life was measured using the parent-proxy and child self-report of Quality of Life Measurement for Children with Epilepsy (CHEQOL-25) questionnaire. Total and subscale CHEQOL-25 scores were obtained. The levels of parent-child agreement were determined using intraclass correlation coefficients (ICC). Family functioning was assessed using the General functioning subscale (GF-12).

    RESULTS: A total of 115 CWE and their parents participated in the study. In general, Malaysian parents rated children's total CHEQOL-25 scores poorer than the children themselves [mean total parent score: 68.56 (SD: 10.86); mean total child score: 71.82 (SD: 9.55)]. Agreement between child and parent on the CHEQOL-25 was poor to moderate (ICC ranged from 0.31-0.54), with greatest discordance in the epilepsy secrecy domain (ICC=0.31, p=0.026). Parent and child were more likely to agree on more external domains: intrapersonal/social (ICC=0.54, p<0.001) and interpersonal/emotional (ICC=0.50, p<0.001). Malay ethnicity, focal seizure and high seizure frequency (≥1 seizure per month) were associated with lower CHEQOL-25 scores. There was a significant but weak correlation between GF-12 and parent-proxy CHEQOL-25 Total Scores (r=-0.186, p=0.046).

    CONCLUSION: Our results emphasize the importance to have the child's perspective of their QOL as the level of agreement between the parent and child reported scores were poor to moderate. Malaysian CWE of Malay ethnicity, those with focal seizures or high seizure frequency are at risk of poorer QOL.

    Matched MeSH terms: Seizures/epidemiology; Seizures/psychology*
  2. Ling SG
    Singapore Med J, 2001 Jun;42(6):264-7.
    PMID: 11547964
    To determine the frequency of complex features in febrile convulsion, association of complex febrile convulsion with neurological findings and risk factors associated with complex febrile convulsion.
    Matched MeSH terms: Seizures/etiology*; Seizures/physiopathology
  3. Lai NM, Tan ML, Quah SY, Tan EL, Foong KW
    Singapore Med J, 2010 Sep;51(9):724-9.
    PMID: 20938614
    We conducted a retrospective audit on the inpatient assessment and care of children admitted with febrile convulsion to Hospital Batu Pahat, a district hospital in Malaysia, using the Malaysian national clinical practice guidelines and the American Academy of Paediatrics practice parameters on febrile convulsion as the reference standards.
    Matched MeSH terms: Seizures, Febrile/diagnosis*; Seizures, Febrile/therapy*
  4. Jarrar Q, Ayoub R, Jarrar Y, Aburass H, Goh KW, Ardianto C, et al.
    J Integr Neurosci, 2023 Jul 26;22(4):104.
    PMID: 37519168 DOI: 10.31083/j.jin2204104
    BACKGROUND: Mefenamic acid (MFA), a common analgesic, causes central nervous system (CNS) toxicity at high doses with a proposed activity on the Gamma-aminobutyric acid (GABA) system. However, it remains unknown whether flumazenil (FMZ), a GABA type A receptor (GABAAR) antagonist, can reverse MFA toxicity.

    METHODS: The behavioral and neurophysiological effects of MFA were investigated in mice with and without FMZ pre-treatment. The elevated zero maze (EZM) and marble burying tests were used to assess anxiety-like behaviors and burying activities, respectively. The standard bar test was used to evaluate catalepsy, while the actophotometer test was used to measure locomotor activity. Seizure intensity was scored, and fatalities were counted.

    RESULTS: Without FMZ pre-treatment, MFA induced behavioral and neurophysiological effects in a dose-dependent manner as follows: At a dose of 20 mg/kg, i.p, MFA-treated mice exhibited anxiety-like behaviors, which was determined by a significant increase in the time spent in the closed areas and a significant decrease in the number of entries to the open areas of the EZM apparatus. These mice also showed a significant decrease in the burying activity, manifested as a significant decrease in the number of buried marbles. At 40 mg/kg, i.p., MFA-treated mice showed catalepsy that was associated with a significant decrease in locomotor activity. At a dose of 80 mg/kg, i.p., mice developed fatal tonic-clonic seizures (seizure score = 4). Pre-treatment with FMZ (5 mg/kg, i.p.) significantly reversed the anxiety-like behaviors and restored marble-burying activity. Additionally, FMZ prevented catalepsy, significantly restored locomotor activity, reduced seizure intensity (seizure score = 0.3) and significantly reduced mortalities.

    CONCLUSIONS: The present study's findings indicate that activation of the GABAAR is involved in the CNS toxicity of MFA, and FMZ reverses MFA toxicity by interfering with this receptor.

    Matched MeSH terms: Seizures/chemically induced; Seizures/drug therapy
  5. Lamy A, Sirota DA, Jacques F, Poostizadeh A, Noiseux N, Efremov S, et al.
    Circulation, 2024 Oct 22;150(17):1315-1323.
    PMID: 38587333 DOI: 10.1161/CIRCULATIONAHA.124.069606
    BACKGROUND: Although intravenous tranexamic acid is used in cardiac surgery to reduce bleeding and transfusion, topical tranexamic acid results in lower plasma concentrations compared with intravenous tranexamic acid, which may lower the risk of seizures. We aimed to determine whether topical tranexamic acid reduces the risk of in-hospital seizure without increasing the risk of transfusion among cardiac surgery patients.

    METHODS: We conducted a multicenter, double dummy, blinded, randomized controlled trial of patients recruited by convenience sampling in academic hospitals undergoing cardiac surgery with cardiopulmonary bypass. Between September 17, 2019, and November 28, 2023, a total of 3242 patients from 16 hospitals in 6 countries were randomly assigned (1:1 ratio) to receive either intravenous tranexamic acid (control) through surgery or topical tranexamic acid (treatment) at the end of surgery. The primary outcome was seizure, and the secondary outcome was red blood cell transfusion. After the last planned interim analysis, when 75% of anticipated participants had completed follow up, the data and safety monitoring board recommended to terminate the trial, and upon unblinding, the operations committee stopped the trial for safety.

    RESULTS: Among 3242 randomized patients (mean age, 66.0 years; 77.7% male), in-hospital seizure occurred in 4 of 1624 patients (0.2%) in the topical group, and 11 of 1628 patients (0.7%) in the intravenous group (absolute risk difference, -0.5% [95% CI, -0.9 to 0.03]; P=0.07). Red blood cell transfusion occurred in 570 patients (35.1%) in the topical group and in 433 (26.8%) in the intravenous group (absolute risk difference, 8.3% [95% CI, 5.2-11.5]; P=0.007). The absolute risk difference in transfusion of ≥4 units of red blood cells in the topical group compared with the intravenous group was 8.2% (95% CI, 3.4-12.9).

    CONCLUSIONS: Among patients undergoing cardiac surgery, topical administration of tranexamic acid resulted in an 8.3% absolute increase in transfusion without reducing the incidence of seizure, compared with intravenous tranexamic acid.

    REGISTRATION: URL: https://www.clinicaltrials.gov; Unique identifier: NCT03954314.

    Matched MeSH terms: Seizures/etiology; Seizures/prevention & control
  6. Al-Qazzaz NK, Alrahhal M, Jaafer SH, Ali SHBM, Ahmad SA
    Med Eng Phys, 2024 Aug;130:104206.
    PMID: 39160030 DOI: 10.1016/j.medengphy.2024.104206
    Epilepsy is one of the most common brain diseases, characterised by repeated seizures that occur on a regular basis. During a seizure, a patient's muscles flex uncontrollably, causing a loss of mobility and balance, which can be harmful or even fatal. Developing an automatic approach for warning patients of oncoming seizures necessitates substantial research. Analyzing the electroencephalogram (EEG) output from the human brain's scalp region can help predict seizures. EEG data were analyzed to extract time domain features such as Hurst exponent (Hur), Tsallis entropy (TsEn), enhanced permutation entropy (impe), and amplitude-aware permutation entropy (AAPE). In order to automatically diagnose epileptic seizure in children from normal children, this study conducted two sessions. In the first session, the extracted features from the EEG dataset were classified using three machine learning (ML)-based models, including support vector machine (SVM), K nearest neighbor (KNN), or decision tree (DT), and in the second session, the dataset was classified using three deep learning (DL)-based recurrent neural network (RNN) classifiers in The EEG dataset was obtained from the Neurology Clinic of the Ibn Rushd Training Hospital. In this regard, extensive explanations and research from the time domain and entropy characteristics demonstrate that employing GRU, LSTM, and BiLSTM RNN deep learning classifiers on the All-time-entropy fusion feature improves the final classification results.
    Matched MeSH terms: Seizures/diagnosis; Seizures/physiopathology
  7. Loh NK, Lee WL, Yew WW, Tjia TL
    Ann Acad Med Singap, 1997 Jul;26(4):471-4.
    PMID: 9395813
    This survey covered male Singapore citizens born in 1974 who were medically screened at the age of 18 years before enlistment for compulsory military service. Suspected epileptics were referred to government hospitals for further management. Out of 20,542 men, there were 121 epileptics, giving a cumulative incidence of 5 per 1000 by age 18 years. We had information on 106 (87%) of these individuals and were able to interview them and review their hospital records. Seventy-three of the 106 (69%) epileptics had generalised seizures while 14 (13%) had refractory seizures. There was no statistically significant racial bias amongst these epileptics. Unprovoked afebrile seizures occurred early in these patients, half of whom had seizures onset before 7 years of age. Nine refractory epileptics had a history of febrile seizures, 4 of which were complex febrile seizures. Magnetic resonance imaging identified mesial temporal sclerosis in 2 patients and a hypothalamic lesion in 1 patient. Computed tomographic scans revealed focal cortical atrophy in 2 patients. Nine other patients had normal imaging studies. Nine out of 14 (64%) patients with refractory epilepsy had partial seizures; 4 (29%) had generalised seizures and 1 (7%) was unclassified. This is in contrast to the distribution of the entire cohort of epileptics studied. Two out of 9 patients with refractory partial seizures (gelastic epilepsy and mesial temporal sclerosis) had undergone surgery while 6 of the other 7 patients refused to consider surgery.
    Matched MeSH terms: Seizures/diagnosis; Seizures/ethnology*; Seizures/physiopathology; Seizures/prevention & control
  8. Aye SM, Lim KS, Ramli NM, Tan CT
    Lupus, 2013 Apr;22(5):510-4.
    PMID: 23358870 DOI: 10.1177/0961203312474705
    This is a case report on an uncommon correlation between periodic lateralized epileptiform discharges (PLEDs) and white-matter lesions in cerebral lupus, and with a reduced cerebral blood flow (CBF) in single-photon emission computed tomography (SPECT). A 47-year-old woman with a long-term history of systemic lupus erythematosus (SLE) presented with a seizure followed by frontal lobe dysfunction clinically. An electroencephalogram (EEG) showed bilateral independent PLEDs in the frontal region. A magnetic resonance image of the brain showed white-matter changes in the frontal periventricular region. Cerebral angiogram did not reveal any evidence of vasculitis. A cerebral SPECT with tracer injected during the EEG showing PLEDs showed a reduction in CBF in the frontal regions. Clinical recovery was observed with intravenous immunoglobulin. This case shows that PLEDs can be seen with white-matter changes in SLE.
    Matched MeSH terms: Seizures/etiology*; Seizures/radionuclide imaging
  9. Raymond AA, Gilmore WV, Scott CA, Fish DR, Smith SJ
    Epileptic Disord, 1999 Jun;1(2):101-6.
    PMID: 10937139
    Video-EEG telemetry is often used to support the diagnosis of non-epileptic seizures (NES). Although rare, some patients may have both epileptic seizures (ES) and NES. It is crucially important to identify such patients to avoid the hazards of inappropriate anticonvulsant withdrawal. To delineate the electroclinical characteristics and diagnostic problems in this group of patients, we studied the clinical, EEG and MRI features of 14 consecutive patients in whom separate attacks, considered to be both NES and ES were recorded using video-EEG telemetry. Only two patients were drug-reduced during the telemetry. Most patients had their first seizure (ES or NES) in childhood (median age 7 years; range: 6 months-24 years); 8/14 patients were female. Brain MRI was abnormal in 10/14 patients. Interictal EEG abnormalities were present in all patients; 13/14 had epileptiform and 1/14 only background abnormalities. Over 70 seizures were recorded in these 14 patients: in 12/14 patients, the first recorded seizure was a NES (p < 0.001), and 7 of these patients had at least one more NES before an ES was recorded. Only 3/14 patients had more than 5 NES before an ES was recorded. Recording a small number of apparently NES in an individual by no means precludes the possibility of additional epilepsy. Particular care should be taken, and multiple (> 5) seizure recording may be advisable, in patients with a young age of seizure onset, interictal EEG abnormalities, or a clear, potential aetiology for epilepsy.
    Matched MeSH terms: Seizures/diagnosis*; Seizures/etiology
  10. Choo BKM, Kundap UP, Faudzi SMM, Abas F, Shaikh MF, Samarut É
    Biomed Pharmacother, 2021 Oct;142:112035.
    PMID: 34411917 DOI: 10.1016/j.biopha.2021.112035
    Seizures are the outward manifestation of abnormally excessive or synchronous brain activity. While seizures can be somewhat symptomatically managed with anti-epileptic drugs (AEDs), many patients are still refractory to the currently available AEDs. As a result, there is a need to identify new molecules with anti-seizure properties. Curcumin is the principle curcuminoid of Curcuma longa, or colloquially turmeric, and has been experimentally proven to have anti-convulsive properties, but its poor bioavailability has dampened further therapeutic interest. Hence, this study aimed to ask if structural analogues of curcumin with an adequate bioavailability could have an anti-seizure effect in vivo. To do so, we tested these analogues following a multipronged approach combining the use of several zebrafish seizure models (chemically-induced and genetic) and complementary assays (behavioural and brain activity). Overall, from the 68 analogues tested, we found 15 different derivatives that were able to significantly decrease the behavioural hyperactivity induced by pentylenetetrazol. Of those, only a few showed an effect on the hyperactivity phenotype of two genetic models of brain seizures that are the gabra1 and gabrg2 knockouts. Two analogues, CA 80(1) and CA 74(1), were able to significantly alleviate brain seizures of gabrg2-mutant larvae. As a result, these analogues are good candidates as novel anti-seizure agents.
    Matched MeSH terms: Seizures/drug therapy*; Seizures/genetics
  11. Norsa'adah B, Zainab J, Knight A
    PMID: 23972031 DOI: 10.1186/1477-7525-11-143
    Epilepsy, a chronic disorder of brain characterised by a predisposition to generate epileptic seizures, has an effect on the psychosocial well-being of sufferers. Measuring the quality of life (QOL) of people with epilepsy (PWE) is increasingly recognized as an important component of clinical management. QOL measures differ between countries and there is limited information regarding PWE in Malaysia. The aim of this study was to determine the health related QOL and its relationship with the presence of seizures in PWE at a Malaysian tertiary referral center.
    Matched MeSH terms: Seizures/epidemiology; Seizures/prevention & control; Seizures/psychology*
  12. Ee CL, Mohd Abdullah AA, Samsudin A, Khaliddin N
    Ulus Travma Acil Cerrahi Derg, 2019 09;25(5):527-530.
    PMID: 31475330 DOI: 10.5505/tjtes.2018.57059
    Non-accidental injury (NAI) is not an uncommon problem worldwide, which leads to significant morbidity and mortality in infants. The presence of retinal or subdural haemorrhages, or encephalopathy with injuries inconsistent with the clinical history is highly suggestive of NAI. In this study, we report on a case of a a 3-month-old infant who presented to the casualty department with a very sudden onset of recurrent generalised tonic-clonic seizures. There was no history of trauma or visible external signs. She was found to have bilateral subdural haemorrhages and atypical unilateral ischaemic retinopathy. Retinal photocoagulation was performed with subsequent resolution of vitreous and retinal haemorrhages. However, visual recovery in that eye remained poor. The findings showed that a high index of suspicion of NAI is required in infants with intracranial haemorrhage and unilateral retinal haemorrhages.
    Matched MeSH terms: Seizures
  13. Paudel YN, Kumari Y, Abidin SAZ, Othman I, Shaikh MF
    Int J Mol Sci, 2020 Apr 03;21(7).
    PMID: 32260203 DOI: 10.3390/ijms21072492
    Epilepsy is a devastating neurological condition exhibited by repeated spontaneous and unpredictable seizures afflicting around 70 million people globally. The basic pathophysiology of epileptic seizures is still elusive, reflecting an extensive need for further research. Developing a novel animal model is crucial in understanding disease mechanisms as well as in assessing the therapeutic target. Most of the pre-clinical epilepsy research has been focused on rodents. Nevertheless, zebrafish disease models are relevant to human disease pathophysiology hence are gaining increased attention nowadays. The current study for the very first time developed a pilocarpine-induced chronic seizure-like condition in adult zebrafish and investigated the modulation in several neuroinflammatory genes and neurotransmitters after pilocarpine exposures. Seizure score analysis suggests that compared to a single dose, repeated dose pilocarpine produces chronic seizure-like effects maintaining an average seizure score of above 2 each day for a minimum of 10 days. Compared to the single dose pilocarpine treated group, there was increased mRNA expression of HMGB1, TLR4, TNF-α, IL-1, BDNF, CREB-1, and NPY; whereas decreased expression of NF-κB was upon the repeated dose of pilocarpine administration. In addition, the epileptic group demonstrates modulation in neurotransmitters levels such as GABA, Glutamate, and Acetylcholine. Moreover, proteomic profiling of the zebrafish brain from the normal and epileptic groups from LCMS/MS quantification detected 77 and 13 proteins in the normal and epileptic group respectively. Summing up, the current investigation depicted that chemically induced seizures in zebrafish demonstrated behavioral and molecular alterations similar to classical rodent seizure models suggesting the usability of adult zebrafish as a robust model to investigate epileptic seizures.
    Matched MeSH terms: Seizures/chemically induced; Seizures/genetics*; Seizures/metabolism
  14. Law ZK, England TJ, Mistri AK, Woodhouse LJ, Cala L, Dineen R, et al.
    Eur Stroke J, 2020 Jun;5(2):123-129.
    PMID: 32637645 DOI: 10.1177/2396987320901391
    Introduction: Seizures are common after intracerebral haemorrhage. Tranexamic acid increases the risk of seizures in non-intracerebral haemorrhage population but its effect on post-intracerebral haemorrhage seizures is unknown. We explored the risk factors and outcomes of seizures after intracerebral haemorrhage and if tranexamic acid increased the risk of seizures in the Tranexamic acid for IntraCerebral Haemorrhage-2 trial.

    Patients and methods: Seizures were reported prospectively up to day 90. Cox regression analyses were used to determine the predictors of seizures within 90 days and early seizures (≤7 days). We explored the effect of early seizures on day 90 outcomes.

    Results: Of 2325 patients recruited, 193 (8.3%) had seizures including 163 (84.5%) early seizures and 30 (15.5%) late seizures (>7 days). Younger age (adjusted hazard ratio (aHR) 0.98 per year increase, 95% confidence interval (CI) 0.97-0.99; p = 0.008), lobar haematoma (aHR 5.84, 95%CI 3.58-9.52; p 

    Matched MeSH terms: Seizures
  15. Akyuz E, Paudel YN, Polat AK, Dundar HE, Angelopoulou E
    Epilepsy Behav, 2021 Feb;115:107701.
    PMID: 33412369 DOI: 10.1016/j.yebeh.2020.107701
    Epilepsy is a devastating neurological disorder characterized by the repeated occurrence of epileptic seizures. Epilepsy stands as a global health concern affecting around 70 million people worldwide. The mainstream antiepileptic drugs (AEDs) only exert symptomatic relief and drug-resistant epilepsy occurs in up to 33 percent of patients. Hence, the investigation of novel therapeutic strategies against epileptic seizures that could exert disease modifying effects is of paramount importance. In this context, compounds of natural origin with potential antiepileptic properties have recently gained increasing attention. Quercetin is a plant-derived flavonoid with several pharmacological activities. Emerging evidence has demonstrated the antiepileptic potential of quercetin as well. Herein, based on the available evidence, we discuss the neuroprotective effects of quercetin against epileptic seizures and further analyze the plausible underlying molecular mechanisms. Our review suggests that quercetin might be a potential therapeutic candidate against epilepsy that deserves further investigation, and paves the way for the development of plant-derived antiepileptic treatment approaches.
    Matched MeSH terms: Seizures
  16. Chun, Wai Chang, Raman, Sivaraj
    MyJurnal
    Although therapeutic drug monitoring (TDM) has been used in practice, conflicting data on its usefulness in the management of epilepsy have been reported. These results range from identifying no significant differences in patients’ clinical outcomes to determining TDM to be a cost-effective service. Thus, this study was conducted to evaluate the effectiveness of our pharmacist-managed TDM service in helping patients with epilepsy (PWE) to achieve seizure control. This was a retrospective observational study conducted in the TDM Unit of Hospital Keningau, Sabah. Pharmacist-prepared reports issued for 30 subjects with uncontrolled seizures in 2014 were analysed to determine the effectiveness of their recommendations. Effectiveness was measured based on the number of patients who achieved ≥ 50% reduction in seizure frequency and the number of patients with a threemonth seizure-free period. Overall, 80% of the pharmacists’ TDM recommendations were accepted by prescribers. Based on the data collected, 17 (56.67%) subjects had their seizure frequency decreased at least by half, while 11 (36.67%) subjects achieved total remission. However, there was no significant association between acceptance of recommendations and seizure control; although acceptance of pharmacist recommendations was associated with 1.4 times greater odds of achieving seizure control among PWE, this difference was not statistically significant. In conclusion, a pharmacist-managed TDM service was associated with an improvement in seizure control of more than 50% among PWE with unsatisfactory seizure control.
    Matched MeSH terms: Seizures
  17. Payus AO, Clarence C, Azman Ali R
    Int J Gen Med, 2020;13:861-864.
    PMID: 33116778 DOI: 10.2147/IJGM.S277394
    Group B streptococcus (GBS) is a rare cause of meningitis in adults that commonly affects patients with multiple underlying comorbidities. Although it is uncommon, it typically progresses very rapidly and has a high mortality rate as compared to other causes of bacterial meningitis. Here, we report a patient with GBS meningitis who had no underlying medical illness and presented with multiple episodes of seizure within hours of developing fever. Cerebrospinal fluid analysis results were consistent with bacterial meningitis, and blood cultures grew GBS. She was treated with intravenous ceftriaxone for 2 weeks and made a great recovery without any sequalae. In conclusion, although GBS meningitis is uncommon in adults, it is a serious medical disease and associated with a high mortality rate. To the best of our knowledge, this patient represents one of the few reported cases of GBS meningitis in a previously healthy young adult.
    Matched MeSH terms: Seizures
  18. Ahmed Juvale II, Che Has AT
    Heliyon, 2020 Jul;6(7):e04557.
    PMID: 32775726 DOI: 10.1016/j.heliyon.2020.e04557
    The pilocarpine animal model of status epilepticus is a well-established, clinically translatable model that satisfies all of the criteria essential for an animal model of status epilepticus: a latency period followed by spontaneous recurrent seizures, replication of behavioural, electrographic, metabolic, and neuropathological changes, as well as, pharmacoresistance to anti-epileptic drugs similar to that observed in human status epilepticus. However, this model is also characterized by high mortality rates and studies in recent years have also seen difficulties in seizure induction due to pilocarpine resistant animals. This can be attributed to differences in rodent strains, species, gender, and the presence of the multi-transporter, P-glycoprotein at the blood brain barrier. The current paper highlights the various alterations made to the original pilocarpine model over the years to combat both the high mortality and low induction rates. These range from the initial lithium-pilocarpine model to the more recent Reduced Intensity Status Epilepticus (RISE) model, which finally brought the mortality rates down to 1%. These modifications are essential to improve animal welfare and future experimental outcomes.
    Matched MeSH terms: Seizures
  19. Ameerah Jaafar, Feizel Alsiddiq, Ling, King-Hwa
    MyJurnal
    Gene mutation is one of the etiologies of early-onset epileptic encephalopathy (EOEE), an age-dependent seizure in infants, which leads to brain defects. Previous studies have shown that several genes namely, aristalessrelated homeobox (ARX), cyclindependent kinaselike 5 (CDKL5) and syntaxinbinding protein 1 (STXBP1) are responsible for the pathophysiology of the syndrome. Thestudy involved 20 EOEE patients and 60 control subjects, which aimed toinvestigatethe clinical association of Malaysian EOEE subjects with 13 known pathogenic mutations in the genes of interest. In addition, the entire ARX exonic region was also sequenced for known and novel mutations. PCR specificity and efficiency were optimized using conventional PCR and High Resolution Melting Analysis (HRMA). All cases and approximately 10% of control amplicon samples were purified and subjected to DNA sequencing. All known mutations reported previously were not found in control subjects and Malaysian EOEE patients with 100% confirmation by sequencing results. Sequencing of ARX exonic regionsof patient samplesdid not find any mutation in all exons. The preliminary study indicates that selected known pathogenic mutations of ARX, CDKL5and STXBP1are not associated with EOEE in Malaysian paediatric patients.
    Matched MeSH terms: Seizures
  20. Paudel, Yam Nath, Lisgaras, Christos Panagiotis, Lim, Kheng Seang, Shaikh, Mohd. Farooq
    MyJurnal
    Epilepsy is a chronic neurological disorder characterized by the rapid occurrence of epileptic seizures affecting approximately 70 million people worldwide[1,2]. The quality of life of people with epilepsy (PWE) is challenged by a series of comorbidities that might include neurologic and neuropsychiatric disorders (cognitive decline, depression, anxiety, schizophrenia, and autism) as well as metabolic, cardiovascular and respiratory diseases[3]. Neurobehavioral and other comorbidities might share a reciprocal and complex relationship with epileptogenesis and ictogenesis thus biomarkers of the former might be useful for the prediction of the latter and vice versa[4].
    Matched MeSH terms: Seizures
Filters
Contact Us

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

External Links