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Epileptic Encephalopathy (epileptic + encephalopathy)

Distribution by Scientific Domains

Medical Sciences	85%

Selected Abstracts

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005,2009

EPILEPSIA, Issue 4 2010
Anne T. Berg
Summary The International League Against Epilepsy (ILAE) Commission on Classification and Terminology has revised concepts, terminology, and approaches for classifying seizures and forms of epilepsy. Generalized and focal are redefined for seizures as occurring in and rapidly engaging bilaterally distributed networks (generalized) and within networks limited to one hemisphere and either discretely localized or more widely distributed (focal). Classification of generalized seizures is simplified. No natural classification for focal seizures exists; focal seizures should be described according to their manifestations (e.g., dyscognitive, focal motor). The concepts of generalized and focal do not apply to electroclinical syndromes. Genetic, structural,metabolic, and unknown represent modified concepts to replace idiopathic, symptomatic, and cryptogenic. Not all epilepsies are recognized as electroclinical syndromes. Organization of forms of epilepsy is first by specificity: electroclinical syndromes, nonsyndromic epilepsies with structural,metabolic causes, and epilepsies of unknown cause. Further organization within these divisions can be accomplished in a flexible manner depending on purpose. Natural classes (e.g., specific underlying cause, age at onset, associated seizure type), or pragmatic groupings (e.g., epileptic encephalopathies, self-limited electroclinical syndromes) may serve as the basis for organizing knowledge about recognized forms of epilepsy and facilitate identification of new forms. [source]

A novel ARX phenotype: rapid neurodegeneration with Ohtahara syndrome and a dyskinetic movement disorder

DEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 3 2010
MICHAEL ABSOUD
ARX mutations are associated with variable clinical phenotypes. We report a new neurodegenerative phenotype associated with a known ARX mutation and causing early abnormal neurodevelopment, a complex movement disorder, and early infantile epileptic encephalopathy with a suppression-burst pattern (Ohtahara syndrome). A male infant presented at age 5 months with a dyskinetic movement disorder, which was initially diagnosed as infantile spasms. Clinical deterioration was accompanied by progressive cortical atrophy with a reduction in white matter volume and resulting in death in the first year of life; such a rapidly progressive and severe phenotype has not previously been described. ARX mutation testing should be undertaken in children aged less than 1 year with Ohtahara syndrome and a movement disorder, and in infants with unexplained neurodegeneration, progressive white matter loss, and cortical atrophy. [source]

Febrile infection,related epilepsy syndrome (FIRES): A nonencephalitic encephalopathy in childhood

EPILEPSIA, Issue 7 2010
Andreas Van Baalen
Summary Encephalitis is generally presumed, even when seizures follow banal febrile infection, and pathogen detection in cerebrospinal fluid fails. This retrospective multicenter case series reports on 22 previously healthy children aged 3,15 years (median 6.5 years) with prolonged or recurrent seizures occurring 2,14 days (median 5 days) after fever onset (19 children with respiratory or nonspecific infections). Cerebrospinal fluid studies revealed 2,42 cells/,l (median 5 cells/,l) and no pathogens. Electroencephalography showed diffuse slowing or multifocal discharges. Neuroimaging demonstrated normal findings in 10 children. Brain biopsies were performed in seven children showing gliosis but no inflammation. Anesthetic barbiturates were used in 14 children with refractory status epilepticus, and immunotherapy in 9. Two children died, eight remained in a state of impaired consciousness, eight developed therapy-refractory epilepsies, two had behavioral disturbances, and two recovered. The lack of evidence for encephalitis suggests another infection-related pathogenesis of this disastrous epileptic encephalopathy. Therefore, we propose the term "febrile infection,related epilepsy syndrome" (FIRES). [source]

Ring chromosome 20 syndrome: A link between epilepsy onset and neuropsychological impairment in three children

EPILEPSIA, Issue 11 2009
Aglaia Vignoli
Summary Purpose:, Ring chromosome 20 [r(20)] syndrome is a well-defined chromosomal disorder characterized by epilepsy, mild-to-moderate mental retardation, and lack of recognizable dysmorphic features. Epilepsy is often the most important clinical manifestation of the syndrome, even if its appearance is not constantly precocious. Seizures are frequently drug resistant. Methods:, We describe three children with [r(20)] syndrome in whom the onset of epilepsy (age at onset range: 4 years and 6 months to 9 years and 4 months) determined a kind of epileptic status (age at onset range: 6 years and 10 months to 9 years and 8 months) with dramatic neuropsychological deterioration. This epileptic status lasted for several months because of refractoriness to most antiepileptic drugs (AEDs), but it was treated successfully with a combination of valproate and lamotrigine in two children. Results:, As soon as seizures stopped, the children showed prompt recovery with partial restoration of the neuropsychological impairment. Conclusion:, This clinical picture can be described as abrupt epileptic encephalopathy. [source]

Cognitive Deficits during Status Epilepticus and Time Course of Recovery: A Case Report

EPILEPSIA, Issue 10 2007
Wim Van Paesschen
Summary:, We describe a young woman with progressive cognitive and neurological deficits during a parietal lobe status epilepticus (SE). Ictal FDG-PET showed left parietal lobe hypermetabolism and frontal lobe hypometabolism with concomitant EEG slowing. Cognitive and neurological deficits fully reversed more than 1 year after seizure remission, and were associated with normalization of FDG-PET and EEG. Our findings suggest that ictal hypometabolism and EEG delta activity at a distance from the epileptic focus were seizure-related phenomena, possibly representing inhibition in seizure propagation pathways, which could be responsible for the epileptic encephalopathy. [source]

Practitioner Review: Use of antiepileptic drugs in children

THE JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY AND ALLIED DISCIPLINES, Issue 2 2006
Renzo 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]

Folinic acid,responsive seizures are identical to pyridoxine-dependent epilepsy,

ANNALS OF NEUROLOGY, Issue 5 2009
Renata C. Gallagher MD
Objective Folinic acid,responsive seizures and pyridoxine-dependent epilepsy are two treatable causes of neonatal epileptic encephalopathy. The former is diagnosed by characteristic peaks on cerebrospinal fluid (CSF) monoamine metabolite analysis; its genetic basis has remained elusive. The latter is due to ,-aminoadipic semialdehyde (,-AASA) dehydrogenase deficiency, associated with pathogenic mutations in the ALDH7A1 (antiquitin) gene. We report two patients whose CSF showed the marker of folinic acid,responsive seizures, but who responded clinically to pyridoxine. We performed genetic and biochemical testing of samples from these patients, and seven others, to determine the relation between these two disorders. Methods CSF samples were analyzed for the presence of ,-AASA and pipecolic acid. DNA sequencing of the ALDH7A1 gene was performed. Results Both patients reported here had increased CSF ,-AASA, CSF pipecolic acid, and known or likely pathogenic mutations in the ALDH7A1 gene, consistent with ,-AASA dehydrogenase deficiency. Analysis of CSF samples from seven other anonymous individuals diagnosed with folinic acid,responsive seizures showed similar results. Interpretation These results demonstrate that folinic acid,responsive seizures are due to ,-AASA dehydrogenase deficiency and mutations in the ALDH7A1 gene. Thus, folinic acid,responsive seizures are identical to the major form of pyridoxine-dependent epilepsy. We recommend consideration of treatment with both pyridoxine and folinic acid for patients with ,-AASA dehydrogenase deficiency, and consideration of a lysine restricted diet. The evaluation of patients with neonatal epileptic encephalopathy, as well as those with later-onset seizures, should include a measurement of ,-AASA in urine to identify this likely underdiagnosed and treatable disorder. Ann Neurol 2008 [source]