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Medicine Sep 2022Myoclonic epilepsy in infancy (MEI) is a rare syndrome characterized by generalized myoclonic seizures (MS) that occur within the first 3 years of life. In the present...
Myoclonic epilepsy in infancy (MEI) is a rare syndrome characterized by generalized myoclonic seizures (MS) that occur within the first 3 years of life. In the present study, the form of onset, and clinical and electroencephalogram (EEG) features were analyzed. A retrospective chart review was conducted for 16 MEI patients between March 2009 and July 2022 in Peking Union Medical College. The clinical and video EEG (VEEG) characteristics, treatment strategy, and follow-up information were analyzed. Four cases presented with afebrile generalized tonic-clonic seizures (GTCS) at the onset of MEI (GTCS at onset or atypical MEI), while 12 cases presented with MS at onset (MS at onset or typical MEI). The 24-hour VEEG revealed a generalized discharge of polyspike (or spike)-and-wave complexes that lasted for 1-3 seconds in the ictal phase. All patients were treated with valproic acid monotherapy, and none of the patients experienced seizure recurrence. Furthermore, all patients had normal psychomotor development at the end of the follow up period. Typical MEI (MS at onset) and atypical MEI (GTCS at onset) were described in the present study. These 2 groups differed in form of onset, but there were no significant differences in clinical or EEG features.
Topics: Electroencephalography; Epilepsies, Myoclonic; Humans; Retrospective Studies; Seizures; Valproic Acid
PubMed: 36197249
DOI: 10.1097/MD.0000000000030512 -
Seizure Aug 2021Epileptic syndromes are well-defined conditions comprising particular clinical features [seizure types, age of onset, response to treatment] and characteristic... (Review)
Review
Epileptic syndromes are well-defined conditions comprising particular clinical features [seizure types, age of onset, response to treatment] and characteristic electroencephalographic changes, while their etiology and subsequent prognosis may vary. The recognition of these syndromes is fundamental for pediatric neurology practice, representing an essential learning topic in this field. Nevertheless, many epileptic syndromes are still quite unfamiliar to students, residents and even neurologists, because of their low incidence and their minimal representation in the literature. This narrative review discusses the concept of epileptic syndromes and revisits seven lesser-known or uncommon syndromes in order to summarize their core clinical features, which can become important clues for daily neurological practice, namely epilepsy of infancy with migrating focal seizures, myoclonic epilepsy of infancy, self-limited infantile epilepsy, myoclonic encephalopathy in nonprogressive disorders, Jeavons syndrome, and epilepsy with myoclonic absences.
Topics: Child; Electroencephalography; Epilepsies, Myoclonic; Epilepsy, Reflex; Epileptic Syndromes; Humans; Incidence
PubMed: 34023208
DOI: 10.1016/j.seizure.2021.05.005 -
Medicina 2019Epileptic encephalopathies is a group of epileptic syndromes characterized by progressive cognitive impairment beyond the expected for the epilepsy activity. They are... (Review)
Review
Epileptic encephalopathies is a group of epileptic syndromes characterized by progressive cognitive impairment beyond the expected for the epilepsy activity. They are characterized by severe pharmaco-resistant epilepsy, severely abnormal electroencephalograms, early-age onset, neurocognitve impairment, variable phenotype and usually normal brain MRI. These syndromes are usually genetically determined. A correct and timely diagnosis could help and guide the medical counselling and the correct therapeutic approach improving the short, medium and long term outcomes. In this article we review the electroencephalographic and genetic findings along with the most recommended therapeutic options facilitating the clinical management. We include the following epileptic encephalopathy syndromes: Ohtahara, early myoclonic encephalopathy, epilepsy of infancy with migrating focal seizures, West, Dravet, non-progressive myoclonic status, Doose, Lennox-Gastaut, Landau-Kleffner and continuous spike-wave during sleep epilepsy.
Topics: Anticonvulsants; Brain Diseases; Electroencephalography; Epilepsies, Myoclonic; Humans; Spasms, Infantile; Syndrome
PubMed: 31603843
DOI: No ID Found -
Arquivos de Neuro-psiquiatria May 2022Cannabidiol (CBD) has become a promising therapeutic option in the treatment of epilepsy. Recent studies provide robust evidence that CBD is effective and safe.... (Review)
Review
BACKGROUND
Cannabidiol (CBD) has become a promising therapeutic option in the treatment of epilepsy. Recent studies provide robust evidence that CBD is effective and safe. Limitations in current knowledge and regulatory issues still limit CBD use. CBD use regarding epilepsy types still lacks clear guidelines.
OBJECTIVE
To critically review the main current pharmacological features and clinical issues regarding CBD use in epilepsy, to provide current regulatory background regarding CBD use in Brazil, and to suggest a practical CBD therapeutic guide in Brazil.
METHODS
Non-systematic literature review (up to February 2022) of current concepts of CBD and epilepsy, including the authors' personal experience.
RESULTS
Five pivotal trials have led to CBD approval as an adjunctive treatment for Dravet and Lennox-Gastaut syndromes, and for the tuberous sclerosis complex. Efficacy of CBD in other drug-resistant epilepsies remains not completely understood. CBD adverse event profile and drug interactions are better understood. CBD is well tolerated. In Brazil, CBD is not classified as a medication, but as a product subject to a distinct regulatory legislation. CBD is still not offered by the National Brazilian health system, but can be purchased in authorized pharmacies or imported under prescription and signed informed consent.
CONCLUSION
CBD is a recognized novel treatment for epilepsy. Future well-designed studies and public health strategies are needed to offer widespread access to CBD, and to improve the quality of life of people living with epilepsy in Brazil.
Topics: Anticonvulsants; Brazil; Cannabidiol; Epilepsies, Myoclonic; Epilepsy; Humans; Quality of Life
PubMed: 35976327
DOI: 10.1590/0004-282X-ANP-2022-S137 -
Seizure Jul 2018Tap seizure is a type of reflex myoclonic epilepsy in which seizures are evoked mainly by unexpected tactile stimuli and which is classified among the electroclinical... (Review)
Review
Tap seizure is a type of reflex myoclonic epilepsy in which seizures are evoked mainly by unexpected tactile stimuli and which is classified among the electroclinical syndromes of infancy. This condition, whose onset is in the first two years of life, is characterized by excellent prognosis and is extremely rare. We reviewed all published articles and case reports on Reflex Myoclonic Epilepsies focusing on touch-induced seizures in order to clarify clinical and electroencephalographic findings. Our aim is to increase knowledge about this specific disorder in order to help pediatricians avoid extensive investigations when making their diagnosis and reassure parents regarding absence of long-term complications.
Topics: Brain; Epilepsy, Reflex; Humans; Infant; Myoclonic Epilepsy, Juvenile; Seizures; Touch
PubMed: 29727740
DOI: 10.1016/j.seizure.2018.04.013 -
Epilepsia 2006The purpose of this article is to present a short review of the natural history of myoclonic astatic epilepsy (MAE; Doose syndrome) and the Lennox-Gastaut syndrome... (Review)
Review
The purpose of this article is to present a short review of the natural history of myoclonic astatic epilepsy (MAE; Doose syndrome) and the Lennox-Gastaut syndrome (LGS). In the 1989 classification of the International League Against Epilepsy (ILAE, 1989), MAE and LGS were initially included in group 2.2: "Cryptogenic or symptomatic generalized epilepsies and syndromes." The subsequent classification of the Proposed Diagnostic Scheme for People with Epileptic Seizures and with Epilepsy (see Ref. 8) placed MAE in axis 3 in the "generalized epilepsy" group and LGS, severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) and atypical benign partial epilepsy/pseudo-Lennox syndrome (ABPE/PLS) in the "epileptic encephalopathy" group. The semiology of MAE and LGS and their differential diagnosis from SMEI and ABPE/PLS are described. Before the onset of SMEI, MAE, and ABPE/PLS, the development of the child is usually normal. In contrast, in LGS, development is frequently retarded at the onset, depending on the etiopathogenesis of the underlying brain disease. The course of MAE is highly variable with regard to seizure outcome (complete remission in some cases, persistent epilepsy in others) and cognitive development (normal or delayed). The course of LGS and SMEI is generally poor, both with regard to the epilepsy and to the cognitive development whereas the course and seizure outcome of ABPE/PLS is favorable; the patients will be seizure-free at puberty. However, the neuropsychological outcome is less favorable; most patients remain mentally retarded.
Topics: Age of Onset; Child, Preschool; Cognition Disorders; Comorbidity; Diagnosis, Differential; Electroencephalography; Epilepsies, Myoclonic; Epilepsy; Humans; Infant; Intellectual Disability; Prognosis; Syndrome; Terminology as Topic
PubMed: 17105462
DOI: 10.1111/j.1528-1167.2006.00690.x -
Epilepsia 2003Despite the availability of numerous treatment options, the diagnosis and treatment of myoclonic seizures continue to be challenging. Based on clinical experience,... (Review)
Review
Despite the availability of numerous treatment options, the diagnosis and treatment of myoclonic seizures continue to be challenging. Based on clinical experience, valproate and benzodiazepines have historically been used to treat myoclonic seizures. However, many more treatment options exist today, and the clinician must match the appropriate treatment with the patient's epilepsy syndrome and its underlying etiology. Comorbidities and other medications must also be considered when making decisions regarding treatment. Rarely, some antiepileptic drugs may exacerbate myoclonic seizures. Most epileptic myoclonus can be treated pharmacologically, but some cases respond better to surgery, the ketogenic diet, or vagus nerve stimulation. Because myoclonic seizures can be difficult to treat, clinicians should be flexible in their approach and tailor therapy to each patient.
Topics: Animals; Anticonvulsants; Epilepsies, Myoclonic; Humans
PubMed: 14641568
DOI: 10.1046/j.1528-1157.44.s11.5.x -
Epilepsia Apr 2011Dravet syndrome was described in 1978 by Dravet (1978) under the name of severe myoclonic epilepsy in infancy (SMEI). The characteristics of the syndrome were confirmed... (Review)
Review
Dravet syndrome was described in 1978 by Dravet (1978) under the name of severe myoclonic epilepsy in infancy (SMEI). The characteristics of the syndrome were confirmed and further delineated by other authors over the years. According to the semiologic features, two forms have been individualized: (1) the typical, core, SMEI; and (2) the borderline form, SMEIB, in which the myoclonic component is absent or subtle. Clinical manifestations at the onset, at the steady state, and during the course of the disease are analyzed in detail for the typical Dravet syndrome, and the differential diagnosis is discussed. Onset in the first year of life by febrile or afebrile clonic and tonic-clonic, generalized, and unilateral seizures, often prolonged, in an apparently normal infant is the first symptom, suggesting the diagnosis. Later on, multiple seizure types, mainly myoclonic, atypical absences, and focal seizures appear, as well as a slowing of developmental and cognitive skills, and the appearance of behavioral disorders. Mutation screening for the SCN1A gene confirms the diagnosis in 70-80% of patients. All seizure types are pharmacoresistent, but a trend toward less severe epilepsy and cognitive impairment is usually observed after the age of 5 years.
Topics: Epilepsies, Myoclonic; Humans; NAV1.1 Voltage-Gated Sodium Channel; Nerve Tissue Proteins; Phenotype; Sodium Channels; Syndrome
PubMed: 21463272
DOI: 10.1111/j.1528-1167.2011.02994.x -
Epilepsia 2000Although for most children epilepsy is a relatively benign disorder, for some, epilepsy can be designated as "catastrophic" because the seizures are so difficult to... (Review)
Review
Although for most children epilepsy is a relatively benign disorder, for some, epilepsy can be designated as "catastrophic" because the seizures are so difficult to control and because they are strongly associated with mental retardation. The catastrophic childhood epilepsies include uncommon disorders such as early infantile epileptic encephalopathy with suppression burst, severe myoclonic epilepsy of infancy, and epilepsy with myoclonic-astatic seizures. There are other syndromes that are relatively common such as infantile spasms, Lennox-Gastaut syndrome, and Sturge-Weber syndrome. Many children with catastrophic epilepsy have the seizures as a result of underlying brain abnormalities that will inevitably lead to mental retardation whether or not they have seizures. In some patients, however, the mental retardation appears to be caused by the seizures. Developmental plasticity provides children with an opportunity to recover from significant brain injuries. However, the plasticity may also be the cause of the mental retardation. In such patients, control of the seizures may lead to more normal intellectual development. Thus, every effort should be made to control seizures in children with catastrophic epilepsy.
Topics: Anticonvulsants; Brain; Child; Child, Preschool; Encephalitis; Epilepsies, Myoclonic; Epilepsy; Humans; Infant; Intellectual Disability; Neuronal Plasticity; Outcome Assessment, Health Care; Severity of Illness Index; Spasms, Infantile; Sturge-Weber Syndrome
PubMed: 10885734
DOI: 10.1111/j.1528-1157.2000.tb01518.x -
Scientific Reports Feb 2022Juvenile myoclonic epilepsy (JME) is a common idiopathic generalised epilepsy with variable seizure prognosis and sex differences in disease presentation. Here, we...
Juvenile myoclonic epilepsy (JME) is a common idiopathic generalised epilepsy with variable seizure prognosis and sex differences in disease presentation. Here, we investigate the combined epidemiology of sex, seizure types and precipitants, and their influence on prognosis in JME, through cross-sectional data collected by The Biology of Juvenile Myoclonic Epilepsy (BIOJUME) consortium. 765 individuals met strict inclusion criteria for JME (female:male, 1.8:1). 59% of females and 50% of males reported triggered seizures, and in females only, this was associated with experiencing absence seizures (OR = 2.0, p < 0.001). Absence seizures significantly predicted drug resistance in both males (OR = 3.0, p = 0.001) and females (OR = 3.0, p < 0.001) in univariate analysis. In multivariable analysis in females, catamenial seizures (OR = 14.7, p = 0.001), absence seizures (OR = 6.0, p < 0.001) and stress-precipitated seizures (OR = 5.3, p = 0.02) were associated with drug resistance, while a photoparoxysmal response predicted seizure freedom (OR = 0.47, p = 0.03). Females with both absence seizures and stress-related precipitants constitute the prognostic subgroup in JME with the highest prevalence of drug resistance (49%) compared to females with neither (15%) and males (29%), highlighting the unmet need for effective, targeted interventions for this subgroup. We propose a new prognostic stratification for JME and suggest a role for circuit-based risk of seizure control as an avenue for further investigation.
Topics: Adolescent; Adult; Child; Cross-Sectional Studies; Drug Resistance; Epilepsies, Myoclonic; Epilepsy, Absence; Female; Humans; Male; Middle Aged; Myoclonic Epilepsy, Juvenile; Photosensitivity Disorders; Prognosis; Seizures; Sex Characteristics; Young Adult
PubMed: 35190554
DOI: 10.1038/s41598-022-06324-2