METHODS: To understand the genetic factor in a family with GGE, we performed whole exome sequencing (WES) on a trio of a juvenile myoclonic epilepsy/febrile seizure (JME/FS) proband with JME/FS mother and healthy father. Sanger sequencing was carried out for validation of WES results and variant detection in other family members.

RESULTS: Predictably damaging variant found in affected proband and mother but absent in healthy father in SCN1A gene was found to be associated with generalized epilepsy and febrile seizure. The novel non-synonymous substitution (c.5753C>T, p.S1918F) in SCN1A was found in all family members with GGE, of which 4/8 were JME subtypes, and/or febrile seizure, while 3 healthy family member controls did not have the mutation. This mutation was also absent in 41 GGE patients and 414 healthy Malaysian Chinese controls.

METHODS: The proposed technique decomposes ictal EEG recursively, eliminates a few unwanted components in every recursive cycle, and finally selects the most significant ictal component. Back-projected EEG, regenerated from that component, was used for source estimation. Fifty sets of simulated EEGs and 24 seizures in 8 patients were analyzed. Dipole sources of simulated-EEGs were compared with a known dipole location whereas epileptogenic zones of the seizures were compared with their corresponding sites of successful surgery. The RIDICS technique was compared with a conventional technique.

RESULTS: The RIDICS technique estimated the dipole sources at an average distance of 12.86 mm from the original dipole location, shorter than the distances obtained using the conventional technique. Epileptogenic zones of the patients, determined by the RIDICS technique, were highly concordant with the sites of surgery with a concordance rate of 83.33%.

CONCLUSIONS: Results show that the RIDICS technique can be a promising quantitative technique for ictal component selection.

METHOD: Deceased PWE from 2005 to 2020 were identified from the National Registry Department of Malaysia. The details of the cause of death and predictors for epilepsy-related deaths was ascertained from medical records and phone interviews.

RESULT: There were a total of 227 deaths, 144 (63.4%) were male, two (0.9%) underwent autopsy and 46.3% passed away in the community. The majority of deaths (55.5%) were due to causes unrelated to epilepsy. Forty-five (19.8%) death were related to epilepsy, of which, 22 (9.7%) were due to death directly related to epilepsy including probable SUDEP (5.3%) and status epilepticus (4.4%). The cause of death was unknown in 56 (24.7%) cases. Binary logistic regression analysis identified 3 predictors for epilepsy-related deaths, i.e., structural causes (OR 3.09, 95% CI 1.100-8.691, p = 0.032), younger age of death (OR 2.35, 95% CI 1.039-5.333, p = 0.040) and history of brain surgery (OR 8.09, 95% CI 2.014-32.510, p = 0.003). Twelve (5.3%) had probable SUDEP. The incidence rate of probable SUDEP was 0.42 per 1000 person-years. The majority of them had intellectual disability (9/12), generalized tonic-clonic seizures (9/12), and 2 or more ASMs (9/12).

METHOD: This is a cross-sectional anonymized web-based study on PWE, using an online questionnaire to assess the clinical, logistic, and psychological impacts of COVID-19, including Hospital Anxiety Depression Scale (HADS) and Quality of Life in Epilepsy Inventory (QOLIE-31).

OBJECTIVES: This qualitative study aimed to explore the lived experience of caregivers of AWE in Malaysian families and understand their caregiving challenges. Individual semi-structured interviews were held with 12 primary caregivers of AWE. Interpretative Phenomenological Approach (IPA) was used. The interview transcripts were analyzed using NVivo12 software.

RESULTS: Primary caregivers of AWE were parents or siblings, with ages ranging from 56 to 80 years old and years of caregiving from 24 to 40 years. Most AWE (58%) were intellectually disabled and fully dependent on ADL needs. Two categories of themes emerged, including four themes on caregiver burden, i.e., physical, emotional, and social burdens, and challenges in future planning of care, and two themes on coping strategies (problem- or emotional-focused). In future planning of care, most caregivers especially parents carried a burden of responsibility and were reluctant to depend on others or institutional services.

METHOD: This study is aimed to identify differentiating features of EPR between physiological and pathological population.

RESULTS: A total of 43 patients with pyramidal lesions and 113 normal controls were recruited for this study. The pathological EPRs were more reproducible, with 89.4% having at least two positive Babinski responses and 91.5% having two positive Chaddock responses (vs. 14.3% and 4.8% in controls, P < 0.001). The pathological EPR was more sensitive to stimulation, in which 89.1% were elicited when the stimulation reached mid-lateral sole (vs. 11.9% in controls, P < 0.001). Most (93.6%) pathological cases had sustained big toe extension throughout stimulation (vs. 73.8% in controls, P < 0.001). As compared to those with brain lesion, the plantar responses in those with spinal lesion are less likely to have ankle dorsiflexion (5.3% vs. 25%, P < 0.05) more likely to have sustained extensor response with Babinski (94.7% vs. 71.4%, P < 0.05), Chaddock (89.5% vs. 64.3%, P < 0.05), and Schaefer (26.3% vs. 3.6%, P < 0.05) methods. A scoring system was computed using four variables, i.e., two consecutive positive Babinski or Chaddock responses, extensor response at mid-lateral sole, and sustained extension throughout stimulation. A score ≥3 is predictive of pathological origin, with sensitivity and specificity of 78.7% and 95.2%, respectively.

METHOD: This is a mixed-method study employing the Public Attitude Toward Epilepsy (PATE) scale as the quantitative measure, followed by a semi-structured interview. The qualitative data were then counted and analyzed concurrently with the quantitative data.

RESULT: A total of 410 respondents (104 people with epilepsy [PWE]; 104 family members [FM]; 100 medical students [MS]; 102 public [Pb]) aged 37 years (IQR 23-55) were recruited. They were mostly female (57.3%), Chinese (52.0%), and highly educated (63.7%). The attitudes toward epilepsy among medical students are the best, followed by the PWE and their family members, and the worst among the public. The qualitative results revealed 4 main themes, which were "general social values", "epilepsy severity and control", "PWE's abilities", and "harms and burdens to the respondents and others". A two-dimensional perception model was constructed based on these themes, which consisted of general-personal and universal-specific dimensions. Generally, the PWE/FM subgroup focused more on PWE's abilities, whereas the MS/Pb subgroup more on general social values, and harms and burden. In the education aspect, most attitudes were related to the epilepsy severity and PWE's abilities, whereas in employment, the main consideration was the PWE's abilities. Burden to life and concern about inheritance were major considerations in the marital relationship. Those with positive attitudes tend to highlight the importance of general social values, while negative attitudes associated more with epilepsy severity. In general domain, general social values were the main considering factor but in personal domain, most participants will consider epilepsy severity and control, harms and burden to themselves.