exudates and Seizures--Febrile

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

Topics: Adolescent; Adult; Aged; Epilepsy, Generalized; Exome Sequencing; Female; Humans; Malaysia; Male; Middle Aged; Mutation; Myoclonic Epilepsy, Juvenile; NAV1.1 Voltage-Gated Sodium Channel; Pedigree; Seizures, Febrile

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.

Topics: DNA Mutational Analysis; Electroencephalography; Epilepsy, Generalized; Female; Humans; Malaysia; Male; Mutation; NAV1.1 Voltage-Gated Sodium Channel; Polymorphism, Single Nucleotide; Seizures, Febrile

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.. The case notes of 100 consecutive children admitted in 2004 were analysed. The documentation of major clinical features, selection of investigations, the timeliness of antipyresis and frequency of parental education were evaluated.. In general, the major clinical features that were relevant to the presenting problem were adequately documented, although fever was not mentioned as a presenting complaint in one quarter of the cases. On an average, about five investigations were ordered for every patient on admission. There was no major difference in the number of investigations conducted between children who were more severely ill and the rest of the patients. The majority of the investigations did not yield any useful diagnostic information. Only 38 percent of the children received antipyretics and 53 percent were tepid-sponged during fever, with 23 percent having received tepid-sponging without concurrently receiving antipyretics. No parental education on febrile convulsion was recorded in half of the cases.. Excessive unjustified investigations, deficient antipyresis when required and inadequate communication with the family of children with febrile convulsion were observed. Awareness of such deficiencies from this audit should lead to regular staff education, monitoring and future audits in order to improve the quality of our clinical care.

Topics: Antipyretics; Child; Child, Preschool; Diagnostic Errors; Female; Fever; Humans; Infant; Malaysia; Male; Pediatrics; Retrospective Studies; Seizures, Febrile; Treatment Outcome

A descriptive study using data from the medical records of 448 children with febrile convulsion was carried out to determine the seizure characteristics and use of anti-convulsant therapy for febrile convulsions in a Malaysian hospital. There was a higher incidence of multiple seizures and a lower incidence of focal seizures in the local population than in studies done among Western populations. The majority of initial seizures occurred within 24 h of fever onset. Transient neurological abnormalities following an acute seizure were common. A quarter of children referred by general practitioners had been given anti-convulsants prior to referral but up to 20% of general practitioners had used ineffective routes for administering diazepam. However, diazepam used in the hospital was found to be effective in controlling acute febrile seizures.

Topics: Acute Disease; Anticonvulsants; Child; Child, Preschool; Diazepam; Female; Hospitalization; Humans; Infant; Malaysia; Male; Retrospective Studies; Seizures, Febrile

The reactions of 117 parents to the febrile seizure experienced by their children; and their fears and worries were investigated. A standard questionnaire was used and clinical information was abstracted from the notes. In 88.9% of the cases, the adult present at the seizure was one of the parents usually the mother. Most of the parents (66.7%) did tepid sponging to bring the fever down but a third tried to open the clenched teeth of the child. The adults present placed the child supine in 62.9%, on the side in 9.5% and prone in 6.0%. Over half of the parents brought the child to a private clinic first before bringing to hospital. A fifth of the children were given antipyretics by the parent or the doctor and an anticonvulsant was given in 7.7% of cases. Interestingly, in 12% of children traditional treatment was given for the seizure. Three quarters of the parents knew that the febrile seizure was caused by high fever (which we have taken as the correct knowledge of febrile seizure). However "ghosts" and "spirits" were blamed as the cause of the seizure by 7% of parents. Factors significantly associated with correct knowledge were higher parental education and higher family income. The most common fear expressed was that the child might be dead or might die from the seizure (70.9%). Fear of death was associated with low paternal education. We concluded that the majority of our parents had reacted appropriately to a febrile seizure and their knowledge of the cause of febrile seizure was generally correct. Their fears and worries were similar to those elsewhere. However, traditional beliefs and practices may have to be taken into consideration during counselling.

Topics: Adult; Attitude to Health; Child; Child, Preschool; Female; Humans; Infant; Malaysia; Male; Parents; Seizures, Febrile

A child with a febrile seizure is a common cause of admission in a general paediatric ward in Malaysia. We set out to look prospectively into the clinical and epidemiological features of these children. A total of 117 children were admitted into the study. The ratio of boys to girls were 1.5:1.0. The racial breakdown was 62.4% Malays, 26.5% Indians, 8.5% Chinese and 2.6% others. The first febrile seizure occurred before the age of three years in 92.9% of our patients. The highest number of febrile seizures was in the six to 12 months age group. The average length of seizure was 9.5 minutes and the majority were non-recurrent. Febrile seizures with complex features occurred in 33.3% of the children. Upper respiratory tract infection was the most common cause of fever in our patients. There was a family history of seizures (febrile or afebrile) in 26.5% of patients.

Topics: Age Factors; Age of Onset; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Malaysia; Male; Prevalence; Seizures, Febrile; Sex Factors