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Tremor and Other Hyperkinetic Movements... 2018Autosomal dominant familial cortical myoclonic tremor and epilepsy (FCMTE) is characterized by distal tremulous myoclonus, generalized seizures, and signs of cortical... (Review)
Review
BACKGROUND
Autosomal dominant familial cortical myoclonic tremor and epilepsy (FCMTE) is characterized by distal tremulous myoclonus, generalized seizures, and signs of cortical reflex myoclonus. FCMTE has been described in over 100 pedigrees worldwide, under several different names and acronyms. Pathological changes have been located in the cerebellum. This systematic review discusses the clinical spectrum, treatment, pathophysiology, and genetic findings.
METHODS
We carried out a PubMed search, using a combination of the following search terms: cortical tremor, myoclonus, epilepsy, benign course, adult onset, familial, and autosomal dominant; this resulted in a total of 77 studies (761 patients; 126 pedigrees) fulfilling the inclusion and exclusion criteria.
RESULTS
Phenotypic differences across pedigrees exist, possibly related to underlying genetic differences. A "benign" phenotype has been described in several Japanese families and pedigrees linked to 8q (FCMTE1). French patients (5p linkage; FCMTE3) exhibit more severe progression, and in Japanese/Chinese pedigrees (with unknown linkage) anticipation has been suggested. Preferred treatment is with valproate (mind teratogenicity), levetiracetam, and/or clonazepam. Several genes have been identified, which differ in potential pathogenicity.
DISCUSSION
Based on the core features (above), the syndrome can be considered a distinct clinical entity. Clinical features may also include proximal myoclonus and mild progression with aging. Valproate or levetiracetam, with or without clonazepam, reduces symptoms. FCMTE is a heterogeneous disorder, and likely to include a variety of different conditions with mutations of different genes. Distinct phenotypic traits might reflect different genetic mutations. Genes involved in Purkinje cell outgrowth or those encoding for ion channels or neurotransmitters seem good candidate genes.
Topics: Epilepsies, Myoclonic; Humans; Phenotype
PubMed: 29416935
DOI: 10.7916/D85155WJ -
Epilepsia Dec 2013Seizure precipitation is a defining characteristic of reflex seizures and epilepsies, but seizure precipitants are also commonly reported for patients with epilepsies... (Review)
Review
Seizure precipitation is a defining characteristic of reflex seizures and epilepsies, but seizure precipitants are also commonly reported for patients with epilepsies not considered to be reflex in nature. This raises the questions of exactly how reflex and nonreflex epilepsies with seizure precipitants are defined, and how these concepts are differentiated from one another in current practice. In this systematic literature review, definitions of reflex seizures, reflex epilepsies, and precipitation in a nonreflex context were extracted from published primary research papers. Content analysis was applied to these definitions to identify their main features, allowing comparisons to be made between definitions of the different concepts. Results indicated that there was little consistency within definitions of a given term, and that although some differences in definition content were found between terms, it was evident that clear defining characteristics to differentiate them from one another were lacking. These findings are discussed in the context of current debates regarding classification of the reflex epilepsies and the extent to which the distinction between reflex and nonreflex epilepsies is a meaningful one. Suggestions are made for how clarity might be increased in ongoing research in this area.
Topics: Epilepsy; Epilepsy, Reflex; Humans; Seizures; Terminology as Topic
PubMed: 24032405
DOI: 10.1111/epi.12340 -
Seizure Mar 2021Juvenile myoclonic epilepsy (JME), like other forms of idiopathic generalized epilepsy, shows a marked female predominance. However, few studies have specifically... (Review)
Review
PURPOSE
Juvenile myoclonic epilepsy (JME), like other forms of idiopathic generalized epilepsy, shows a marked female predominance. However, few studies have specifically addressed the role of sex in its long-term prognosis. We performed a systematic review of the literature relevant to JME prognosis, focusing on sex-based differences in prognostic factors and outcome.
METHODS
A comprehensive literature search of the PubMed and Scopus databases was performed, considering all articles up to April 2020 in which long-term prognosis in JME had been explored and sex differences in outcome or prognostic factors were specified.
RESULTS
We included 25 articles published between 1984 and 2020. Sex differences in epilepsy outcome were explored by 21 of the 25 studies, but only three reported different outcomes in male vs female patients. All three found female sex to be associated with a later response to antiseizure medications, worse seizure control, and a higher risk of relapse in their entire study samples, which included JME patients. Eight studies found sex-based differences in possible predictors of long-term outcome: prolonged epileptiform EEG runs and the presence of eye closure sensitivity, both more frequent in women, were factors possibly linked to a poorer prognosis, as were praxis induction and generalized EEG asymmetric changes, which instead were more common in men. Valproate use, more frequent in men, was associated with a better outcome.
CONCLUSION
Most studies do not highlight sex differences in JME prognosis. However, some sex specificities do emerge, especially with regard to particular reflex traits and EEG abnormalities. Finally, sex may condition therapeutic choices, and thus have a possible impact on long-term outcome.
Topics: Electroencephalography; Female; Humans; Male; Myoclonic Epilepsy, Juvenile; Prognosis; Seizures; Sex Characteristics
PubMed: 33524768
DOI: 10.1016/j.seizure.2021.01.005 -
Seizure Dec 2020Eating epilepsy is a rare disorder, characterised by reflex seizures induced by food intake. It is highly heterogenous, with clinical signs and EEG findings varying...
Eating epilepsy is a rare disorder, characterised by reflex seizures induced by food intake. It is highly heterogenous, with clinical signs and EEG findings varying between patients. However, common features do emerge from the reported literature. The aim of this systematic review was to bring together this information to facilitate understanding and recognition. We therefore searched electronic databases (PubMed, Scopus, Medline) for relevant studies using keywords 'epilepsy', 'seizure' and 'eating' in March 2020. Human studies, written in English, that reported on cohorts of patients with eating epilepsy were included. Fifty-two unique papers were consequently identified, describing seizure characteristics and diagnostic features in 378 patients. Eating seizures began in the second decade of life, with a higher incidence in males. They were typically focal-onset, and most commonly of the focal impaired awareness type. Pharmacological therapy with one or multiple agents was noted in 80 % of cases, with poor control reported in approximately 25 % of patients. While this retrospective work highlights key features, it is important that future studies implicate video EEG to fully evaluate this highly unique and interesting disorder.
Topics: Adult; Anticonvulsants; Eating; Electroencephalography; Epilepsy, Reflex; Female; Humans; Male; Retrospective Studies; Seizures
PubMed: 33080481
DOI: 10.1016/j.seizure.2020.09.013 -
Seizure Mar 2023New-onset epileptic seizures and status epilepticus (SE) are the most frequent neurological manifestations of non-ketotic hyperglycemia (NKH), an acute complication of... (Meta-Analysis)
Meta-Analysis Review
New-onset epileptic seizures and status epilepticus (SE) are the most frequent neurological manifestations of non-ketotic hyperglycemia (NKH), an acute complication of diabetes mellitus (DM). Treatment consists of the correction of the underlying metabolic disorder, whereas anti-seizure medications (ASMs) may even worsen seizures. Evidence on NKH-related seizures is currently restricted to case reports and small case-series. We conducted a systematic review of the PubMed, Embase, and Cochrane Library databases to provide a comprehensive description of NKH-related seizures. Statistical analyses were performed to explore possible associations of glycemic and osmolarity levels with clinical variables. We selected 130 publications and 332 patients (186 males, mean age: 61.1 years). DM was newly-diagnosed in 40%. Mean glycemia and osmolarity levels at presentation were 529.7 mg/dL and 309.6 mmol/mol, respectively; 22.6% showed other neurological symptoms besides seizures. Focal motor seizures were the prominent seizure type (49.4%); non-motor focal seizures (23.2%) most commonly manifested as visual symptoms. Reflex seizures occurred in 10.5%. Brain MRI in 48.7% of cases showed focal T2 subcortical hypodensity and/or overlying cortical T2 hyperintensity with DWI restriction. ASMs were administered in 54.2% of cases, achieving seizure control in just 18.3%. Higher osmolarity levels were associated with newly-diagnosed DM (p = 0.002) and other symptoms at presentation (p < 0.001). Glycemic values were higher in patients with focal aware seizures with motor onset compared to those with focal seizures without motor onset (p = 0.0046) or focal seizures with impaired awareness (p = 0.0306). Lower glycemic values were associated with reflex seizures (p = 0.036) and ASM administration (p < 0.001). NKH-related seizures should be suspected in adults with new-onset clustering focal seizures arising from the motor or posterior cortices, even in the absence of a history of DM. Typical focal changes on brain MRI, while not pathognomonic, can drive the clinical diagnosis. Statistical associations suggest a key role of hyperglycemia in the excitability of higher-energy-demanding cortical areas.
Topics: Male; Adult; Humans; Middle Aged; Epilepsy; Hyperglycemia; Epilepsies, Partial; Status Epilepticus; Ketosis
PubMed: 36773573
DOI: 10.1016/j.seizure.2023.01.018