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Critical care, neurology and analgesia
Published in Evelyne Jacqz-Aigrain, Imti Choonara, Paediatric Clinical Pharmacology, 2021
Evelyne Jacqz-Aigrain, Imti Choonara
Epilepsy is the most common treatable neurological condition of childhood. The term ‘epilepsies’, rather than ‘epilepsy’, better defines and characterises the heterogeneous nature of the condition, particularly in childhood. Although there is considerable knowledge and understanding of the epilepsies-which is continuing to expand-there remains much that is both speculative and empirical. Often, this knowledge is based on experience rather than science, including in the areas of the diagnosis, classification and drug management of the different epilepsy syndromes [1].
Epilepsy
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Donald C. Barr, Andres M. Kanner
As stated above, epilepsy is divided into focal and generalized types, with the former representing those epilepsy syndromes that occur as a result of pathologic mechanisms identifiable with either structural or functional neuroimaging studies (e.g. brain magnetic resonance imaging [MRI]). Some common acquired lesions that may lead to seizures include (1) ischemia/stroke (particularly when hemorrhagic), (2) neoplasms (both benign and malignant), (3) arteriovenous malformations (including cavernous angiomas), (4) infection, (5) malformations of cortical development, and (6) CNS trauma and autoimmune disorders. Generalized epilepsy has been associated with underlying genetic pathogenic mechanisms. Epileptic disorders presenting as generalized epilepsies are more common in children, while those resulting from a focal insult to the CNS are more frequent in adults.
Mitochondrial Dysfunction and Epilepsies
Published in Shamim I. Ahmad, Handbook of Mitochondrial Dysfunction, 2019
Bindu Parayil Sankaran, Arun B. Taly
Different types of epilepsy syndromes have also been described in children with respiratory chain defects which include Otohara syndrome, West syndrome, Lennox Gastaut syndrome and Landau Kleffner syndrome. (Lee et al. 2008) Neonatal refractory status and multiorgan failure, neonatal myoclonic epilepsy, infantile spasms, refractory and recurrent status epilepticus, epilepsia partialis continua and myoclonic epilepsy have also been described (El Sabbagh et al. 2010). In one series about 60% had several seizure types emphasizing the complexity of mitochondrial epilepsies. Even though any seizure types or combinations can occur, classical absence epilepsy with three per second spike waves appears to be rare. (Bindoff and Engelsen 2012)
Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms
Published in Expert Review of Molecular Diagnostics, 2023
Danai Veltra, Faidon-Nikolaos Tilemis, Nikolaos M. Marinakis, Maria Svingou, Anastasios Mitrakos, Konstantina Kosma, Irene Tsoutsou, Periklis Makrythanasis, Virginia Theodorou, Marina Katsalouli, Pelagia Vorgia, Georgios Niotakis, Georgios Vartzelis, Argirios Dinopoulos, Athanasios Evangeliou, Stella Mouskou, Anastasia Korona, Sotiria Mastroyianni, Antigone Papavasiliou, Maria Tzetis, Roser Pons, Joanne Traeger-Synodinos, Christalena Sofocleous
Epilepsy, affecting more than 61 million people worldwide, is the most common neurological condition with a frequency of ~70 per 100,000 children aged under 2 years old [1,2]. According to the International League Against Epilepsy (ILAE), epilepsy involves at least two unprovoked seizures occurring more than 24 h apart [3]. Besides a multitude of causative conditions, including hypoxia, ischemia, central nervous system (CNS) infection, or brain injury, epilepsy may present in the context of a genetic syndrome, such as autism spectrum disorders (ASD) and intellectual disability (ID). Known genetic causes include chromosomal anomalies, such as trisomy 21 or ring chromosome 20, and monogenic neurodevelopmental disorders, like Fragile X, Rett, and Angelman syndromes. Epilepsy syndromes are classified into neonatal-infantile, childhood, and variable, according to the age of onset. In each category, further grouping can be based on seizure semiology. Developmental and epileptic encephalopathies (DEE), a novel term adopted by ILAE in 2017, includes neurodevelopmental regression with or without frequent epileptic activity [4]. Supplementary Table 1 summarizes known epilepsy syndromes according to the age of onset.
Treatment response in newly diagnosed epilepsy: a syndromic approach
Published in Neurological Research, 2022
Ali A. Asadi-Pooya, Mohsen Farazdaghi
The syndromic diagnosis of epilepsy should form the basis for the treating physician to decide on an appropriate therapy strategy in each patient with epilepsy; we adopted different treatment strategies in various epilepsy syndromes and under different clinical circumstances. For example, while Ethosuximide is an appropriate ASM for patients with childhood absence epilepsy (CAE), it is not a good option for kids with rolandic epilepsy (both of which are considered as idiopathic epilepsy syndromes) [2]. Similarly, while Carbamazepine is a reasonable first option for patients with focal epilepsy, it is not a good option for patients with SGE [2]. Furthermore, while attaining seizure freedom is often achievable and should be the primary goal of treatment in patients with IGE and also those with focal epilepsy, this target is less likely achievable in patients with SGE. The treating HCP may want to target a main goal to improve the quality of life of the patient by controlling the most disabling seizure types (drop attacks and generalized tonic-clonic seizures), while avoiding polytherapy with many ASMs and the associated adverse effects; this goal should be explained to the patient and their caregivers.
Novel and emerging therapeutics for genetic epilepsies
Published in Expert Review of Neurotherapeutics, 2021
Ana Pejčić, Slobodan M. Janković, Miralem Đešević, Refet Gojak, Snežana Lukić, Nenad Marković, Miloš Milosavljević
Although great steps were made in our understanding of genetic defects and biochemical disorders that cause genetic epilepsies, there are numerous areas that are still insufficiently investigated – for many childhood epilepsy syndromes specific genes and their mutations are not yet known exactly, or clinical relevance of discovered genetic variations is unclear. The development of new drugs is dependent on this missing knowledge, so further research efforts should be made in this direction. Besides, genetic and biochemical origins of certain frequent morphological brain disorders associated with epilepsy, like focal cortical dysplasia (FCD), are increasingly discovered; hyperactivation of the mammalian target of rapamycin (mTOR) pathway was found not only in tuberous sclerosis but in patients with FCD, too. It is likely that everolimus and other drugs that inhibit mTOR pathway will be investigated in patients with a wider spectrum of epileptic syndromes, including ones that we currently do not consider as ‘genetic’ epilepsies.