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Gastaut Syndrome (gastaut + syndrome)
Selected AbstractsGenetic Malformations of the Cerebral Cortex and EpilepsyEPILEPSIA, Issue 2005Renzo Guerrini Summary:, We reviewed the epileptogenic cortical malformations for which a causative gene has been cloned or a linkage obtained. X-linked bilateral periventricular nodular heterotopia (BPNH) consists of typical BPNH with epilepsy in female patients and prenatal lethality in most males. About 90% of patients have focal epilepsy. Filamin A mutations have been reported in all families and in ,20% of sporadic patients. A rare recessive form of BPNH also has been reported. Most cases of lissencephaly,pachygyria are caused by mutations of LIS1 and XLIS genes. LIS1 mutations cause a more severe malformation posteriorly. Most children have isolated lissencephaly, with severe developmental delay and infantile spasms, but milder phenotypes have been recorded. XLIS usually causes anteriorly predominant lissencephaly in male patients and subcortical band heterotopia (SBH) in female patients. Thickness of the band and severity of pachygyria correlate with the likelihood of developing Lennox,Gastaut syndrome. Mutations of the coding region of XLIS are found in all reported pedigrees and in 50% of sporadic female patients with SBH. Autosomal recessive lissencephaly with cerebellar hypoplasia; accompanied by severe delay, hypotonia, and seizures, has been associated with mutations of the RELN gene. Schizencephaly has a wide anatomoclinical spectrum, including focal epilepsy in most patients. Familial occurrence is rare. Initial reports of heterozygous mutations in the EMX2 gene need confirmation. Among several syndromes featuring polymicrogyria, bilateral perisylvian polymicrogyria shows genetic heterogeneity, including linkage to Xq28 in some pedigrees, autosomal recessive inheritance in others, and association with 22q11.2 deletion in some patients. About 65% of patients have severe epilepsy, often Lennox,Gastaut syndrome. Recessive bilateral frontal polymicrogyria has been linked to chromosome 16q12.2,21. [source] Lamotrigine Therapy of Epilepsy in Tuberous SclerosisEPILEPSIA, Issue 7 2001David Neal Franz Summary: ,Purpose: Lamotrigine (LTG), a newer antiepileptic drug (AED), has activity against both partial-onset and generalized seizures. Its reported benefits for behavior, and its effectiveness in Lennox,Gastaut syndrome and other forms of refractory epilepsy, make it a logical choice for treatment of epilepsy in tuberous sclerosis complex (TSC). We present our experience with LTG therapy of epilepsy in 57 patients with TSC. Methods: Patients fulfilled the diagnostic criteria for clinically definite TSC. LTG was initiated and increased until improvement in seizure frequency was noted, intolerable side effects occurred, or maximal doses were reached. Seizure frequency and behavioral changes were recorded during LTG therapy and compared with those prior to the introduction of LTG. Results: Twenty-four (42%) were seizure free, and 21 (37%) had a >50% reduction in seizure frequency. Eighteen (32%) had subjectively improved behavior and/or alertness with daily activities. Thirty-eight (67%) had no change in this regard, whereas one (2%) became worse. Responders were more likely to not have a history of infantile spasms, and to have experienced only partial seizures (p < 0.05). Otherwise no phenotypic correlations with response were apparent. Conclusions: Among patients with TSC and epilepsy, LTG was effective and well tolerated, including as initial monotherapy. Improved alertness and behavior were apparent in many patients. The incidence of side effects is similar to that reported for other pediatric populations with symptomatic partial epilepsy. The usefulness of LTG in TSC may relate to an underlying defect of glutamatergic neurotransmission in partial epilepsy. [source] Topiramate in long-term treatment of epilepsy in the intellectually disabledJOURNAL OF INTELLECTUAL DISABILITY RESEARCH, Issue 3 2005M. Arvio Abstract Background To study the effectiveness of topiramate (TPM) in refractory epilepsy in patients who have intellectual disability (ID). Methods A representative population sample of 57 patients with ID (age range 2,61, mean 32.8) was administered add-on TPM for drug-refractory epilepsy. Results Seizure freedom for at least for 6 months was attained by 10 (17%), and seizure reduction of ,,50% by further 26 (46%). Less than 50% decrease in seizure frequency was found in 16 (29%). TPM was more efficacious in localisation-related than in generalised epilepsies (81% vs. 50%, P = 0.019). An at least 50% decrease in seizure frequency was achieved by patients with temporal lobe epilepsy in 100%, continuous spike,waves during sleep syndrome in 75%, Lennox,Gastaut syndrome in 52%, and those with infantile spasms in 25% of cases. As great decrease in seizure frequency was found in most patients with cortical dysplasia (83%), acquired encephalopathy with mesial temporal sclerosis (MTS) (75%), and genetic disease associated with MTS (66%). Adverse effects occurred in 10% including two (3%) with seizure aggravation and three (5%) necessitating discontinuation. Conclusion TPM is an effective antiepileptic drug which is of value in treating people with seizures that are resistant to other antiepileptic medication. As a broad-spectrum drug it may substitute for polypharmacy and, at the same time decrease adverse effects and costs of therapy. [source] Practitioner Review: Use of antiepileptic drugs in childrenTHE JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY AND ALLIED DISCIPLINES, Issue 2 2006Renzo Guerrini Background:, The aim in treating epilepsy is to minimise or control seizures with full respect of quality-of-life issues, especially of cognitive functions. Optimal treatment first demands a correct recognition of the major type of seizures, followed by a correct diagnosis of the type of epilepsy or of the specific syndrome. Methods:, Review of data from literature and personal clinical experience in treating children with epilepsy. Results:, After summarising the general aspects on the diagnosis and treatment of the main forms of childhood epilepsy, we review key issues about management of seizure disorders, including when to start treatment, how to proceed when the first treatment fails, and how to set the targets of treatment. A special section is devoted to the new concept of epileptic encephalopathy and to the influence of ,interictal' EEG abnormalities on cognition, behaviour, and motor abilities in children, providing some suggestions on why and how to treat these conditions. A second section approaches the choice of treatment according to the specific syndromes including infantile spasms, focal epilepsies, syndromes with typical absence seizures, the myoclonic epilepsies and the Lennox,Gastaut syndrome. Conclusions:, Antiepileptic drugs (AEDs) can efficiently control seizures in most children. However, the specificity of AEDs is relatively limited, although continuing research is leading to a better understanding of the relationship between pathogenesis and the mechanism(s) and site(s) of drug action. [source] Celiac disease and epilepsy: favorable outcome in a child with difficult to control seizuresACTA NEUROLOGICA SCANDINAVICA, Issue 4 2003R. Pratesi We report the case of a child with difficulties to control epilepsy and celiac disease, diagnosed soon after the onset of the seizure disorder. Seizure frequency and pattern, in addition to electroencephalogram record were suggestive of Lennox,Gastaut syndrome. Diagnosis of celiac disease was determined by positive anti-endomysium and anti-transglutaminase tests, and abnormal jejunal biopsy. Gluten-free diet, started soon after the diagnosis, led to progressive seizure control, allowing significant decrease in dosage of anti-epileptic drugs. This case corroborates the importance of serological screening tests for celiac disease, at least in patients with difficult to control epilepsy. [source] | ||||||||||