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Fulltext Variable outcome for epilepsy after neonatal hypoglycaemia

Fong CY, Harvey AS

Dev Med Child Neurol, 2014 Nov;56(11):1093-9.
PMID: 24861161 DOI: 10.1111/dmcn.12496

To evaluate the electroclinical features of epilepsy secondary to neonatal hypoglycaemia.

Matched MeSH terms: Epilepsy, Generalized/etiology*; Epilepsy, Generalized/physiopathology
Fulltext The EEG and epilepsy in Kelantan--a hospital/laboratory-based study

Win MN

Med J Malaysia, 1993 Jun;48(2):153-9.
PMID: 8350790

Five hundred and ninety three cases of clinically diagnosed and suspected epilepsy were analysed as regards to the EEG (standard scalp electrode recording) features for confirmation and typing. Fifty-five per cent of all clinically diagnosed adult epileptics were confirmed by the EEG with the initial record, and the EEG confirmatory rate in children was higher at 92%. The frequency of generalised epilepsy as confirmed by the EEG was found to be 86% in adults and 92% in children, reflecting a higher proportion of generalised epilepsy in the population than reported elsewhere. Clinical diagnosis of partial epilepsy was often subsequently shown to be of generalised type on EEG.

Matched MeSH terms: Epilepsy, Generalized/classification; Epilepsy, Generalized/diagnosis*
De-novo mutations and genetic variation in the SCN1A gene in Malaysian patients with generalized epilepsy with febrile seizures plus (GEFS+)

Tan EH, Razak SA, Abdullah JM, Mohamed Yusoff AA

Epilepsy Res, 2012 Dec;102(3):210-5.
PMID: 22944210 DOI: 10.1016/j.eplepsyres.2012.08.004

Generalized epilepsy with febrile seizures plus (GEFS+) comprises a group of clinically and genetically heterogeneous epilepsy syndrome. Here, we provide the first report of clinical presentation and mutational analysis of SCN1A gene in 36 Malaysian GEFS+ patients. Mutational analysis of SCN1A gene revealed twenty seven sequence variants (missense mutation and silent polymorphism also intronic polymorphism), as well as 2 novel de-novo mutations were found in our patients at coding regions, c.5197A>G (N1733D) and c.4748A>G (H1583R). Our findings provide potential genetic insights into the pathogenesis of GEFS+ in Malaysian populations concerning the SCN1A gene mutations.

Matched MeSH terms: Epilepsy, Generalized/complications; Epilepsy, Generalized/genetics*
Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy

Tsuchida N, Nakashima M, Miyauchi A, Yoshitomi S, Kimizu T, Ganesan V, et al.

Clin Genet, 2018 02;93(2):266-274.
PMID: 28556953 DOI: 10.1111/cge.13061

The seizure threshold 2 (SZT2) gene encodes a large, highly conserved protein that is associated with epileptogenesis. In mice, Szt2 is abundantly expressed in the central nervous system. Recently, biallelic SZT2 mutations were found in 7 patients (from 5 families) presenting with epileptic encephalopathy with dysmorphic features and/or non-syndromic intellectual disabilities. In this study, we identified by whole-exome sequencing compound heterozygous SZT2 mutations in 3 patients with early-onset epileptic encephalopathies. Six novel SZT2 mutations were found, including 3 truncating, 1 splice site and 2 missense mutations. The splice-site mutation resulted in skipping of exon 20 and was associated with a premature stop codon. All individuals presented with seizures, severe developmental delay and intellectual disabilities with high variability. Brain MRIs revealed a characteristic thick and short corpus callosum or a persistent cavum septum pellucidum in each of the 2 cases. Interestingly, in the third case, born to consanguineous parents, had unexpected compound heterozygous missense mutations. She showed microcephaly despite the other case and previous ones presenting with macrocephaly, suggesting that SZT2 mutations might affect head size.

Matched MeSH terms: Epilepsy, Generalized/genetics*; Epilepsy, Generalized/pathology
Whole exome sequencing identifies a novel SCN1A mutation in genetic (idiopathic) generalized epilepsy and juvenile myoclonic epilepsy subtypes

Chan CK, Low JS, Lim KS, Low SK, Tan CT, Ng CC

Neurol Sci, 2020 Mar;41(3):591-598.
PMID: 31720899 DOI: 10.1007/s10072-019-04122-9

INTRODUCTION: Genetic (idiopathic) generalized epilepsy (GGE) is a common form of epilepsy characterized by unknown aetiology and a presence of genetic component in its predisposition.
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.
CONCLUSION: The mutation is likely to affect interaction between the sodium channel and calmodulin and subsequently interrupt calmodulin-dependent modulation of the channel.

Matched MeSH terms: Epilepsy, Generalized/genetics*
SCN1A IVS5N+5 polymorphism and response to sodium valproate: a multicenter study

Haerian BS, Baum L, Tan HJ, Kwan P, Raymond AA, Saruwatari J, et al.

Pharmacogenomics, 2012 Oct;13(13):1477-85.
PMID: 23057548 DOI: 10.2217/pgs.12.127

Approximately 30% of epilepsy patients do not response to antiepileptic drugs (AEDs). The functional SCN1A IVS5N+5 polymorphism may play a role in response to some AEDs. The purpose of this study was to examine this hypothesis in a cohort study of Malaysian and Hong Kong Chinese epilepsy patients on sodium valproate (VPA) monotherapy and in a meta-analysis.

Matched MeSH terms: Epilepsy, Generalized/drug therapy; Epilepsy, Generalized/genetics
Fulltext Exploring Changes in Thalamus Metabolites as Diagnostic Biomarkers in Idiopathic Generalised Epilepsy Patients Using Magnetic Resonance Spectroscopy

Abedi-Firouzjah R, Rostamzadeh A, Banaei A, Shafiee M, Moghaddam ZM, Vafapour H

Malays J Med Sci, 2020 Feb;27(1):78-86.
PMID: 32158347 DOI: 10.21315/mjms2020.27.1.8

Introduction: Idiopathic generalised epilepsy (IGE) refers to a group of epilepsies resulting from the activation of neurons in the whole brain. This study aimed to evaluate the metabolite changes in thalamus as diagnostic biomarkers in IGE patients compared to healthy individuals using magnetic resonance spectroscopy (MRS) technique.
Methods: The MRS was performed on 35 IGE patients (26 women and 11 men) with average age of 32 (ranged from 18 to 43) and 35 healthy individuals (13 women and 22 men) with average age of 31 (ranged from 21 to 50) as the control group. The levels of N-acetylaspartate (NAA), creatine (Cr) and choline (Cho) were measured using MRS. The NAA/Cr and NAA/Cho ratios were calculated for all participants. These values were statistically compared using t-test between the groups.
Results: The NAA had significant lower values in IGE patients, 9.6 (SD = 0.8) and 9.9 (SD = 0.7) for right and left thalamus, respectively, compared to 10.9 (SD = 0.9) and 10.7 (SD = 0.9) in control group. The Cr values in the left side of thalamus were significantly higher in IGE patients (6.7 [SD = 0.8] versus 5.8 [SD = 0.5]); however, there was no difference in right thalamus. Measurements showed no difference for amounts of Cho between the groups in both sides of thalamus. The NAA/Cr ratio was 1.48 (SD = 0.14) and 1.48 (SD = 0.16) for right and left thalamus, respectively, in IGE patients in comparison with 1.83 (SD = 0.2) and 1.86 (SD = 0.26) in controls. There was no meaningful variation between the NAA/Cho ratio of the right and left thalamus among the groups.
Conclusion: Thalamic NAA, Cr and NAA/Cr ratio values in IGE patients showed statistical differences compared to healthy individuals. Evaluating metabolites variations in thalamus using MRS is suggested for differentiating IGE patients from healthy individuals.

Matched MeSH terms: Epilepsy, Generalized
Fulltext Generalized epilepsy with febrile seizure plus (GEFS+) spectrum: Novel de novo mutation of SCN1A detected in a Malaysian patient

Tan EH, Yusoff AA, Abdullah JM, Razak SA

J Pediatr Neurosci, 2012 May;7(2):123-5.
PMID: 23248692 DOI: 10.4103/1817-1745.102575

In this report, we describe a 15-year-old Malaysian male patient with a de novo SCN1A mutation who experienced prolonged febrile seizures after his first seizure at 6 months of age. This boy had generalized tonic clonic seizure (GTCS) which occurred with and without fever. Sequencing analysis of voltage-gated sodium channel a1-subunit gene, SCN1A, confirmed a homozygous A to G change at nucleotide 5197 (c.5197A > G) in exon 26 resulting in amino acid substitution of asparagines to aspartate at codon 1733 of sodium channel. The mutation identified in this patient is located in the pore-forming loop of SCN1A and this case report suggests missense mutation in pore-forming loop causes generalized epilepsy with febrile seizure plus (GEFS+) with clinically more severe neurologic phenotype including intellectual disabilities (mental retardation and autism features) and neuropsychiatric disease (anxiety disorder).

Matched MeSH terms: Epilepsy, Generalized
Mortality in adult epilepsy patients in Malaysia: a hospital-based study

Khor SB, Lim KS, Fong SL, Ho JH, Koh MY, Tan CT

Seizure, 2021 May;88:56-59.
PMID: 33812309 DOI: 10.1016/j.seizure.2021.03.024

BACKGROUND: The standardized mortality ratio (SMR) of epilepsy in Asia ranges from 2.5 to 5.1. However, there are no such published data in Malaysia to date. Understanding the mortality rate and related factors will allow us to better assess and monitor the health status of PWE, thereby, preventing premature deaths among PWE. Hence, this study aimed to determine the mortality rate of adults with epilepsy (PWE) at the University Malaya Medical Centre (UMMC), a tertiary hospital in Malaysia.
METHOD: A total of 2218 PWE were recruited retrospectively into this study. Deceased cases from 2009-2018 were identified from the National Registry Department of Malaysia. Age-, gender-, and ethnic-specific SMR were calculated.
RESULT: There was a total of 163 deaths, of which 111 (68.1%) were male. The overall case-fatality rate (CFR) was 7.3%. Male PWE had higher CFR (9.2%) compared to females (5.1%, p<0.001). The annual death rate of PWE was 867 per 100, 000 persons. The overall all-cause SMR was 1.6 (CI 95% 1.3-1.8). The SMR for younger age groups (15-19 and 20-29 years) were higher (5.4-5.5) compared to other age groups (0.4-2.5). Overall SMR for male PWE (1.8, 95% CI 1.5-2.1) was higher than females (1.2, 95% CI 0.9-1.6). However, the SMR for female PWE in the younger age groups (15-19, 20-29 and 30-39 years) was higher. SMR among the Indian PWE was the highest (1.6, 95% CI 1.2-2.0) compared to the Chinese (1.5, 95% CI 1.2-1.9) and the Malays (1.4, 95% 1.0-1.9). The CFR was higher in those with focal epilepsy (8.5% vs. 2.5-3.7% in genetic and other generalized epilepsies, p=0.003), epilepsy with structural cause (9.5% vs. 5.9% in others, p=0.005) and uncontrolled seizures (7.9% vs. 5.2% in seizure-free group, p<0.001).
CONCLUSION: The mortality rate of PWE in Malaysia is higher than that of the general population but lower compared to other Asian countries. Specifically, the rates are higher in the younger age group, male gender, and Indian ethnicity. Those with focal epilepsy, structural causes and uncontrolled seizures have higher mortality rates.

Matched MeSH terms: Epilepsy, Generalized
Fulltext Lack of meaningful genotype-phenotype association in SCN1A-related infantile-onset epileptic encephalopathies

Siti Aishah Abdul Wahab, Yusnita Yakob, Khoo,Teik-Beng, Sangita Dharshini Terumalay, Vigneswari Ganesan, Teh,Chee-Ming, et al.

Neurology Asia, 2017;22(2):99-111.
MyJurnal

Background & Objective: SCN1A gene which encodes for sodium channel alpha 1 subunit has been
found to be the most common mutated gene in patients with epilepsy. This study aims to characterize the
SCN1A mutations as well as to describe genotype and phenotype association in children with SCN1Arelated
infantile-onset epileptic encephalopathies in Malaysia.

Methods: Children with infantile-onset
epileptic encephalopathy mostly suspected to have Dravet syndrome who had mutational analysis for
SCN1A gene from hospitals all over Malaysia were included in the study. Their epilepsy syndrome
diagnosis was classified into severe myoclonic epilepsy in infancy and its variants. Polymerase chain
reaction and bidirectional sequencing were used to identify SCN1A mutations.

Results: A total of 38
children with heterozygous mutations were analysed, 22 (57.9%) of which were novel mutations.
Truncated mutations were the most common mutation type (19, 50%). Other mutation types were
missense mutations (14, 36.8%), splice site mutations (4, 10.5%) and in-frame deletion (1, 2.6%). The
mean age of seizure onset was 4.7 months. Seizure following vaccination was observed in 26.3% of
the children. All of them had drug resistant epilepsy. There was no significant association between
the type of mutation with the syndromic diagnosis, age of seizure onset, tendency of the seizures to
cluster or having status epilepticus, mean age when developmental delay was observed and response
to various antiepileptic drugs.

Conclusion: This study expands the spectrum of SCN1A mutations and proves the importance of
SCN1A gene testing in diagnosing infantile-onset epileptic encephalopathies patients. Although, our
study does not support any clinically meaningful genotype-phenotype association for SCN1A-related
infantile-onset epileptic encephalopathies, the clinical characteristics of our cohort are similar to those
that have been described in previous studies.

Matched MeSH terms: Epilepsy, Generalized