scholarly journals Epileptic Encephalopathies: An Overview

2012 ◽  
Vol 2012 ◽  
pp. 1-8 ◽  
Author(s):  
Sonia Khan ◽  
Raidah Al Baradie
Keyword(s):  
Slow Wave Sleep ◽  
Epileptic Encephalopathy ◽  
Dravet Syndrome ◽  
Management Options ◽  
Epileptic Encephalopathies ◽  
Age Related ◽  
Ohtahara Syndrome ◽  
Cerebral Dysfunction ◽  
Epileptic Syndromes

Epileptic encephalopathies are an epileptic condition characterized by epileptiform abnormalities associated with progressive cerebral dysfunction. In the classification of the International League Against Epilepsy eight age-related epileptic encephalopathy syndromes are recognized. These syndromes include early myoclonic encephalopathy and Ohtahara syndrome in the neonatal period, West syndrome and Dravet syndrome in infancy, myoclonic status in nonprogressive encephalopathies, and Lennox-Gastaut syndrome, Landau-Kleffner syndrome, and epilepsy with continuous spike waves during slow wave sleep in childhood and adolescences. Other epileptic syndromes such as migrating partial seizures in infancy and severe epilepsy with multiple independent spike foci may be reasonably added. In this paper, we provide an overview of epileptic encephalopathies including clinical neurophysiological features, cognitive deterioration, and management options especially that these conditions are generally refractory to standard antiepileptic drugs.

scholarly journals Electroencephalogram of Age-Dependent Epileptic Encephalopathies in Infancy and Early Childhood

2013 ◽  
Vol 2013 ◽  
pp. 1-18 ◽  
Author(s):  
Lily C. Wong-Kisiel ◽  
Katherine Nickels
Keyword(s):  
Early Childhood ◽  
Diagnostic Value ◽  
Epileptic Encephalopathy ◽  
Epileptic Encephalopathies ◽  
Cerebral Dysfunction ◽  
Age Dependent ◽  
Infancy And Early Childhood

Epileptic encephalopathy syndromes are disorders in which the epileptiform abnormalities are thought to contribute to a progressive cerebral dysfunction. Characteristic electroencephalogram findings have an important diagnostic value in classification of epileptic encephalopathy syndromes. In this paper, we focus on electroencephalogram findings of childhood epileptic encephalopathy syndromes and provide sample illustrations.

scholarly journals The use of the ketogenic diet in the treatment of epileptic encephalopathies

2018 ◽  
Author(s):  
Roberto Caraballo
Keyword(s):  
Ketogenic Diet ◽  
Case Reports ◽  
Case Series ◽  
Dravet Syndrome ◽  
Epilepsy Syndrome ◽  
Behavioral Disturbances ◽  
Paroxysmal Activity ◽  
Epileptic Encephalopathies ◽  
Progressive Encephalopathy ◽  
Epileptic Syndromes

Epileptic encephalopathies(EE) are severe conditions characterized by paroxysmal activity on the electroencephalogram (EEG) that is often aggressive, seizures that are commonly multi-form and intractable, and severe cognitive and behavioral disturbances that present or worsen after the onset of epilepsy. The ketogenic diet (KD) has been shown to be effective in the treatment of refractory epileptic encephalopathies, and has been suggested as an early treatment option in very young children. Although the experience is often anecdotal and mostly consists of case reports and case series, the aim of this study was to present our own experience and an overview of the current literature on the diet in patients with EE. Some encephalopathies, such as epilepsy with myoclonic and atonic seizures, West syndrome, Dravet syndrome, or Lennox-Gastaut syndrome, are well recognized and known to have a good response to the ketogenic diet, while others are more rare or only recently identified, such as epilepsy with focal migrating seizures in infancy, febrile infection-related epilepsy syndrome, or myclonic status in non-progressive encephalopathy, about which little is known and the KD is only tried in sporadic cases. EE are typically refractory to the antiepileptic drugs and the KD  should be considered earlier in the therapeutic scheme of these severe epileptic syndromes. The KD including the oral formula may be considered in all pediatric patients with EE even in infancy.

scholarly journals A reflection on the role of genetics in the concept of “epileptic encephalopathy”, as emerged from the most recent ILEA classification of epilepsy

2020 ◽  
Vol 46 (1) ◽  
Author(s):  
Angelo Russo ◽  
Giuseppe Gobbi
Keyword(s):  
Gene Mutations ◽  
International Community ◽  
Epileptic Encephalopathy ◽  
Specific Gene ◽  
International League Against Epilepsy ◽  
Epileptic Encephalopathies ◽  
Epilepsy Classification ◽  
International League

AbstractThe International League Against Epilepsy (ILAE) has been working to standardize the epilepsy classifications for over a hundred years.The latest epilepsy classification has been recently carried out with a careful overview on several topics including the “epileptic encephalopathies” concept and several constructive discussions on this topic have taken place in the international community of epileptologists.Here we wish to share our reflection on a statement of the ILAE commission on the “epileptic encephalopathy” concept, which in our opinion pays less attention to the “electroclinical syndromes” concept in favor of the new and very rapid genetic advances, thus generating confusion.Our aim is both to preserve the role of electroclinical syndromes, while allowing for the association of the phenotype with specific gene mutations, and to underline the importance of bringing electroclinical syndromes back to the forefront of epileptology.We believe the “match” is still open and for this reason we would like to share our considerations and to open a constructive debate on the “epileptic encephalopathy” concept.

scholarly journals Families driven drug development and clinical trials: a pilot study in Dravet Syndrome to delineate what really matters

2021 ◽  
Author(s):  
Théo Teng ◽  
Tommaso Lo Barco ◽  
Elodie Marie ◽  
Anne-Sophie Hallet ◽  
Isabella Brambilla ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Outcome Measures ◽  
Daily Life ◽  
Real Life ◽  
International Study ◽  
Epileptic Encephalopathy ◽  
Dravet Syndrome ◽  
Convenience Sample ◽  
Age Related ◽  
The Individual

Abstract Background Dravet syndrome (DS) is a developmental and epileptic encephalopathy. Patients rapidly develop drug resistant seizures but patients with DS develop non-seizures disorders that are often age related. We aimed to identify the caregivers’ opinion on the outcome measures that matters in clinical trials in individuals with DS and their correlation with the age of the individual with DS. Methods We conducted a prospective international study with convenience sample based on a 11-closed questions survey developed with three European patients’ advocacy groups (PAG) for DS (France, Italy and Germany). The items were about seizures and daily life outcomes that a clinical trial should target according to family opinion. Items were scored from 1 (not important at all) to 5 (highly important). Statistical analyses were performed to evaluate country (ANOVA and khi2 tests) and age effect (Spearman's ρ). Results Hundred and fifty-three caregivers answered the survey (68%: France, 28%: Germany and 24%: Italy; affected individuals’ characteristics: 86 males, age: 11.4 [25th -75th percentile:7-20.4] years). Demographic characteristics were not significantly different between countries. Families ranked as important almost all the items proposed. However, most of the items related to daily life had the highest rank in all 3 countries compared to items about seizures (p = 0.02). Positive correlation between age and age at diagnosis (ρ = 0.26, p = 0.02) and negative correlations between age and targeting seizure duration and between age (ρ =-0.25, p = 0.005) and targeting the need of referral to hospital (ρ =-0.26, p = 0.005) were identified. Conclusions This study emphasized the DS families’ expectations from therapies beyond seizure efficacy. These data can help to adapt patients-centered outcome measures in future clinical and real-life trials in DS.

scholarly journals Current Pharmacologic Strategies for Treatment of Intractable Epilepsy in Children

2021 ◽  
Vol 25 (Suppl 1) ◽  
pp. S8-18 ◽  
Author(s):  
Ja Un Moon ◽  
Kyung-Ok Cho
Keyword(s):  
Ion Channels ◽  
Molecular Mechanisms ◽  
Intractable Epilepsy ◽  
Epileptic Encephalopathy ◽  
New Drugs ◽  
Dravet Syndrome ◽  
Ohtahara Syndrome ◽  
Voltage Gated Ion Channels ◽  
Related Proteins ◽  
Gated Ion Channels

Epileptic encephalopathy (EE) is a devastating pediatric disease that features medically resistant seizures, which can contribute to global developmental delays. Despite technological advancements in genetics, the neurobiological mechanisms of EEs are not fully understood, leaving few therapeutic options for affected patients. In this review, we introduce the most common EEs in pediatrics (i.e., Ohtahara syndrome, Dravet syndrome, and Lennox-Gastaut syndrome) and their molecular mechanisms that cause excitation/inhibition imbalances. We then discuss some of the essential molecules that are frequently dysregulated in EEs. Specifically, we explore voltage-gated ion channels, synaptic transmission-related proteins, and ligand-gated ion channels in association with the pathophysiology of Ohtahara syndrome, Dravet syndrome, and Lennox-Gastaut syndrome. Finally, we review currently available antiepileptic drugs used to treat seizures in patients with EEs. Since these patients often fail to achieve seizure relief even with the combination therapy, further extensive research efforts to explore the involved molecular mechanisms will be required to develop new drugs for patients with intractable epilepsy.

scholarly journals Continuous Spike-Wave during Slow Wave Sleep and Related Conditions

2014 ◽  
Vol 2014 ◽  
pp. 1-6 ◽  
Author(s):  
Nilika Shah Singhal ◽  
Joseph E. Sullivan
Keyword(s):  
Slow Wave ◽  
Slow Wave Sleep ◽  
Treatment Strategies ◽  
Epileptic Encephalopathy ◽  
Related Condition ◽  
Age Related ◽  
Hormonal Therapies ◽  
Electroencephalogram Eeg ◽  
International League ◽  
Spike Wave

Continuous spike and wave during slow wave sleep (CSWS) is an epileptic encephalopathy that presents with neurocognitive regression and clinical seizures, and that demonstrates an electroencephalogram (EEG) pattern of electrical status epilepticus during sleep, as defined by the Commission on Classification and Terminology of the International League Against Epilepsy 1989. CSWS is an age-related condition, typically presenting in children around 5 years of age, with clinical seizures which progress within 2 years to a severe epileptic encephalopathy. The pathophysiology of CSWS is not completely understood, but the corticothalamic neuronal network involved in sleep patterns is thought to be involved. Genetic predisposition and injury in early development are thought to play etiological roles. Treatment strategies have involved traditional anticonvulsants, hormonal therapies, and other newer techniques. Outcomes are fair, and the thought is that earlier diagnosis and intervention preserve neurocognitive development, as in the case of other epileptic encephalopathies. Further understanding of the mechanisms of CSWS may lead to improved therapeutic options and thus outcomes of children with CSWS.

SLC25A22 and Its Related Epileptic Encephalopathies

2021 ◽  
Author(s):  
Francesca Patanè ◽  
Elisa Pasquetti ◽  
Federica Sullo ◽  
Monica Tosto ◽  
Laura Sciuto ◽  
...  
Keyword(s):  
Epileptic Encephalopathy ◽  
Epileptic Encephalopathies ◽  
Psychomotor Delay ◽  
Brain Functions ◽  
Ohtahara Syndrome ◽  
Inherited Metabolic Disorders ◽  
Solute Carrier ◽  
Disease Modifying Treatment ◽  
Myoclonic Encephalopathy ◽  
Migrating Partial Seizures

AbstractEpileptic encephalopathy is a condition in which seizures, electroencephalographic epileptiform abnormalities lead to a progressive deterioration of brain functions causing a significant psychomotor delay. One of the typical features of this heterogeneous and large group of severe disorders is the extremely early onset of seizures. The main causes of the epileptic encephalopathies include structural brain defects, inherited metabolic disorders; in this aspect, more than 100 genetic defects, including mutations in the solute carrier family 25 (SLC25A22) gene which encodes a mitochondrial glutamate carrier. To date, the main clinical phenotypes related to mutations of this gene are Ohtahara syndrome (or early infantile epileptic encephalopathy), early myoclonic encephalopathy and migrating partial seizures in infancy. In all the cases, prognosis is poor and no disease-modifying treatment is available in the present days.

scholarly journals Genetic Etiologies in Developmental and/or Epileptic Encephalopathy With Electrical Status Epilepticus During Sleep: Cohort Study

2021 ◽  
Vol 12 ◽  
Author(s):  
Pan Gong ◽  
Jiao Xue ◽  
Xianru Jiao ◽  
Yuehua Zhang ◽  
Zhixian Yang
Keyword(s):  
Cohort Study ◽  
Status Epilepticus ◽  
Genetic Disorders ◽  
Epileptic Encephalopathy ◽  
Related Factors ◽  
Pathogenic Variants ◽  
Age Related ◽  
Ohtahara Syndrome ◽  
Related Feature ◽  
The Mean

BackgroundRecently, the electroencephalogram pattern of electrical status epilepticus during sleep (ESES) had been reported in some genetic disorders, and most of them were noted with developmental and epileptic encephalopathy (DEE) or epileptic encephalopathy (EE). This study aimed to determine the genetic etiologies and clinical characteristics of ESES in DEE/EE.MethodsWe performed a cohort study in cases of DEE or EE with ESES. Tio-based genetic testing was performed in 74 cases and was analyzed to identify underlying variants.ResultsPathogenic or likely pathogenic variants were identified in 17/74 cases, including KCNQ2 (n = 6), KCNA2 (n = 5), GRIN2A (n = 3), SLC9A6 (n = 1), HIVEP2 (n = 1), and RARS2 (n = 1). Eleven were boys. The median age at seizure onset was 6 months. ESES occurred at the mean age of 2.0 ± 1.2 years, predominant in the Rolandic region in 14 years. Twelve of 17 cases had the first stage of different epilepsy preceding ESES: 2/12 were diagnosed as Ohtahara syndrome, 2/12 were diagnosed as infantile spasms, 3/12 were diagnosed as DEE, and 5/12 were diagnosed as EE without the epileptic syndrome.ConclusionMonogenic variants explained over 20% of DEE/EE with ESES. ESES could be an age-related feature in genetic disorders and occurred after the first stage of different epilepsy. Both age-related factors and genetic etiology were suggested to play a role in the occurrence of ESES in genetic DEE/EE.

Biological Bases of Symptomatic Generalized Epilepsies in Children

2017 ◽  
Author(s):  
Dragos A. Nita ◽  
Miguel A. Cortez ◽  
Jose Luis Perez Velazquez ◽  
O. Carter Snead
Keyword(s):  
Mental Retardation ◽  
Intractable Epilepsy ◽  
Epileptic Encephalopathy ◽  
Global Developmental Delay ◽  
Epilepsy Syndrome ◽  
Mortality And Morbidity ◽  
Age Related ◽  
Ohtahara Syndrome ◽  
Brain Involvement ◽  
Myoclonic Encephalopathy

Symptomatic generalized epilepsies represent a group of challenging epilepsy syndromes, most often seen in children, which share the hallmark of a triad encompassing multiple seizure types, electroencephalographical (EEG) evidence of diffuse brain involvement, and dysfunction in the intellectual domain (global developmental delay or mental retardation). SGEs include the early myoclonic encephalopathy, early infantile epileptic encephalopathy (Ohtahara syndrome), West syndrome, epilepsy with myoclonic-astatic seizures, epilepsy with myoclonic absence, Lennox-Gastaut syndrome, and the progressive myoclonic epilepsies. SGEs may arise from various genetic, developmental, or acquired brain pathologies and also can be associated with other cerebral or systemic defects and thus being part of a broader epilepsy syndrome phenotype. SGEs are associated with significant mortality and morbidity and most patients with SGE grow up to have intractable epilepsy, mental retardation, and depend on parents and institutions for the activities of the daily living. The mechanisms of SGE are numerous and heterogeneous and the EEG findings usually reflect the age-related changes as the brain matures.

scholarly journals Ketogenic Diet in Epileptic Encephalopathies

2013 ◽  
Vol 2013 ◽  
pp. 1-5 ◽  
Author(s):  
Suvasini Sharma ◽  
Manjari Tripathi
Keyword(s):  
Ketogenic Diet ◽  
Refractory Epilepsy ◽  
Dravet Syndrome ◽  
High Fat ◽  
Carbohydrate Diet ◽  
Epileptic Encephalopathies ◽  
Low Carbohydrate Diet ◽  
Ohtahara Syndrome ◽  
Low Carbohydrate ◽  
Atonic Seizures

The ketogenic diet is a medically supervised high-fat, low-carbohydrate diet that has been found useful in patients with refractory epilepsy. It has been shown to be effective in treating multiple seizure types and epilepsy syndromes. In this paper, we review the use of the ketogenic diet in epileptic encephalopathies such as Ohtahara syndrome, West syndrome, Dravet syndrome, epilepsy with myoclonic atonic seizures, and Lennox-Gastaut syndrome.

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