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Revue D'electroencephalographie Et de... Apr 1982Twenty children (15 males and 5 females) suffering from a particular type of myoclonic epilepsy were submitted to a longitudinal study. All children were neurologically... (Review)
Review
Twenty children (15 males and 5 females) suffering from a particular type of myoclonic epilepsy were submitted to a longitudinal study. All children were neurologically normal. Familial antecedents existed for epilepsy in 25% of the cases (5/20) and for febrile convulsions in 15% (3/20). The first fit appeared with fever at the mean age of 6 months in all cases but one of clonic type. Frequent similar febrile or afebrile clonic seizures recurred in all subjects before the age of 12 months. At this time the EEG was normal in 14 cases and brief discharges of generalized spike-waves during ILS or during sleep were present in 6 cases only. Later, frequent non-febrile clonic unilateral or generalized fits, frequent atypical 'absences' often accompanied by jerks, high photosensitivity and non-epileptic erratic myoclonias appear. Nevertheless, atomic and/or tonic seizures did not appear. The evolution is characterized by the persistence of fits and the appearance of severe language disorder and light cerebellar and pyramidal signs. The authors present their results and discuss the nosological problems of this severe infant myoclonic epilepsy.
Topics: Electroencephalography; Epilepsies, Myoclonic; Female; Humans; Infant; Male; Sleep
PubMed: 6808612
DOI: 10.1016/s0370-4475(82)80004-x -
Epileptic Disorders : International... Jun 2012Praxis-induction of seizures is an interesting subset of reflex epilepsy in which seizures are induced by higher mental activities associated with the use of part of the...
Praxis-induction of seizures is an interesting subset of reflex epilepsy in which seizures are induced by higher mental activities associated with the use of part of the body. Reflex traits have often been described in patients with juvenile myoclonic epilepsy. We report a patient presenting with praxis-induced myoclonic epilepsy at a late age. Ictal myoclonus was triggered by building a bird house and captured by video-polygraphic EEG recording. At 39 years old, the patient's age at onset of epilepsy was consistent with the syndrome of adult myoclonic epilepsy. Our case supports the notion of adult myoclonic epilepsy with possible occurrence of praxis-activation of seizures, as has been noted with the other idiopathic generalised epilepsies. [Published with videosequences].
Topics: Age of Onset; Anticonvulsants; Brain; Craniocerebral Trauma; Electroencephalography; Epilepsies, Myoclonic; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Valproic Acid; Video Recording
PubMed: 22569462
DOI: 10.1684/epd.2012.0498 -
Irish Journal of Medical Science Jan 1947
Topics: Epilepsies, Myoclonic; Humans
PubMed: 20287055
DOI: No ID Found -
France Medecine Apr 1947
Topics: Epilepsies, Myoclonic; Humans; Myoclonus
PubMed: 20259721
DOI: No ID Found -
Zhonghua Yi Xue Za Zhi = Chinese... Jun 1994Recognition of the significance of juvenile myoclonic epilepsy (JME) in the English-language neurological literature is relatively new. There are many factors...
BACKGROUND
Recognition of the significance of juvenile myoclonic epilepsy (JME) in the English-language neurological literature is relatively new. There are many factors responsible for delay in diagnosis of JME, including lack of familiarity with the syndrome, failure to elicit a history of myoclonic jerking and absence or generalized tonic-clonic seizures predating myoclonic jerks in some patients.
METHODS
The medical and electroencephalographic (EEG) records of seven Chinese children with JME, four males and three females, were reviewed.
RESULTS
The age of onset ranged from 10 to 14 years with mean 11.8 +/- 1.6 years. The precipitating factors were sleep deprivation (5/7), photostimulation (3/7), hyperventilation (2/7) and menstruation (1/3). Childhood and juvenile absence epilepsies predated JME in three and one patients, respectively. All patients had concomitant grand mal on awakening. Generalized 3-4 Hz polyspikes-wave complexes occurred in all patients, and two patients had additional 3-4 Hz spike-wave complexes. These activities were provoked with photic stimulation (3/7) and hyperventilation (2/7). All patients were treated with valproate for more than four years, and relapse occurred six months to one year after discontinuation of valproate.
CONCLUSIONS
JME is a benign generalized epilepsy with a strong genetic basis. Valproate is the drug of choice up to now, but long-term (life-long) medication may be needed.
Topics: Adolescent; Child; Electroencephalography; Epilepsies, Myoclonic; Female; Humans; Male; Valproic Acid
PubMed: 8087714
DOI: No ID Found -
Le Mali Medical Jul 2022Progressive Myoclonic Epilepsy (PME) is a heterogeneous group of pathologies associating epileptic seizures and other neurological and non-neurological disorders.
BACKGROUND
Progressive Myoclonic Epilepsy (PME) is a heterogeneous group of pathologies associating epileptic seizures and other neurological and non-neurological disorders.
OBJECTIVES
We aim to characterize patients with symptoms of PME and identify the underlying genetic disorder.
METHODS
After informed consent, the patients seen in the protocol for hereditary neurological diseases and presenting signs of epilepsy without a secondary cause were clinically evaluated over a three-year period in the Department of Neurology of the CHU Point "G". EEG, brain imaging and laboratory tests were performed to consolidate our diagnosis. DNA was extracted for genetic analysis.
RESULTS
141 families including five families with PME totaling eight cases were enrolled. The predominant symptoms in our patients were myoclonus in 87.5% (N = 8), followed by GTCS and cognitive impairment in 50%, each. A notion of parental consanguinity was found in 60% and autosomal recessive transmission evoked in 80% (N = 5). The EEG was pathological in 62.5% and imaging showed ponto-cerebellar atrophy in 25% (N = 8). The combination of sodium valproate and clonazepam was the main treatment. One case of death was recorded.
CONCLUSION
We report cases of PME in Mali with a possibility of discovering new genes.
Topics: Humans; Universities; Myoclonic Epilepsies, Progressive; Epilepsy; Unverricht-Lundborg Syndrome; Hospitals, Teaching; Neurology
PubMed: 36945313
DOI: No ID Found -
Brain & Development Nov 2001In 1978, Dravet proposed a clinical entity called severe myoclonic epilepsy in infancy (SMEI). In the same year, a patient group, which was later called high voltage... (Review)
Review
In 1978, Dravet proposed a clinical entity called severe myoclonic epilepsy in infancy (SMEI). In the same year, a patient group, which was later called high voltage slow wave-grand mal syndrome (HVSW-GM), is reported in Japan. Both syndromes are very similar, except for seizure manifestation: generalized tonic-clonic convulsions (GTC) with myoclonic and other polymorphic seizures in SMEI vs. GTC only in HVSW-GM. To study the pathophysiology of these refractory epilepsies, the author formulated new clinical diagnostic criteria common to both syndromes as follows: GTC with onset before the age of 1 year as the principal seizure type; an epilepsy entity unclassifiable either as partial or generalized by all the clinical data including EEG findings; mental and motor dysfunction absent prior to seizure onset but appearing later; absence of epileptiform activities on EEG in the initial stage; stubborn refractoriness to conventional antiepileptic medication. Twenty-two patients meeting all of five clinical criteria above mentioned were recruited in the study. Detailed analysis of clinico-electrical features and long-term follow-up of these patients led the author to the conclusion that GTC in combination with seizures of other types will contribute to an unfavorable pathophysiological or prognostic conditions, and, especially when GTC exists in combination with myoclonic seizures, the severity of epilepsy will increase. The author claimed that the three clinical entities, SMEI, HVSW-GM, and their variant form, share certain characteristics in common and may constitute a unique epilepsy syndrome for which a new name of infantile refractory grand mal syndrome (IRGMS) was offered. This is a more basic concept with broader spectrum than SMEI, encompassing not only SMEI but also related borderlands like HVSW-GM. More recently, the author observed that early zonisamide medication within 1 year after seizure onset may improve seizure prognosis in IRGMS, by preventing the development of myoclonic seizures.
Topics: Anticonvulsants; Epilepsies, Myoclonic; Epilepsy, Tonic-Clonic; Humans; Infant; Isoxazoles; Zonisamide
PubMed: 11701289
DOI: 10.1016/s0387-7604(01)00279-0 -
Seizure Mar 1993Twelve patients were identified at an epilepsy center who had medically intractable juvenile myoclonic epilepsy. Significant characterization of this group included the... (Review)
Review
Twelve patients were identified at an epilepsy center who had medically intractable juvenile myoclonic epilepsy. Significant characterization of this group included the long duration of their epilepsy (averaging 21 years) during which the diagnosis and appropriate treatment was delayed. A high percentage of these patients had asymmetries or focal discharges on scalp EEG (6 of 9 patients). A review of the literature and the findings in these 12 patients lead to the conclusion that juvenile myoclonic epilepsy is not necessarily a benign epilepsy. Alternative therapies, such as epilepsy surgery, may be indicated in such extreme cases.
Topics: Adult; Anticonvulsants; Diagnosis, Differential; Drug Therapy, Combination; Electroencephalography; Epilepsies, Myoclonic; Epilepsy, Generalized; Female; Follow-Up Studies; Humans; Male
PubMed: 8162368
DOI: 10.1016/s1059-1311(05)80097-4 -
Epilepsia Jun 2023Familial adult myoclonus epilepsy/benign adult familial myoclonic epilepsy (FAME/BAFME) has emerged as a specific and recognizable epilepsy syndrome with autosomal...
Familial adult myoclonus epilepsy/benign adult familial myoclonic epilepsy (FAME/BAFME) has emerged as a specific and recognizable epilepsy syndrome with autosomal dominant inheritance found around the world. Here, we trace the history of this syndrome. Initially, it was likely conflated with other familial myoclonus epilepsies, especially the progressive myoclonus epilepsies. As the progressive myoclonus epilepsies became better understood clinically and genetically, this group began to stand out and was first recognized as such in Japan. Subsequently, families were recognized around the world and there was debate as to whether they represented one or multiple disorders. Clarification came with the identification of pentanucleotide repeats in Japanese families, and FAME/BAFME was quickly shown to be due to pentanucleotide expansions in at least six genes. These have geographic predilections and appear to have been caused by historically ancient initial mutations. Within and between families, there is some variation in the phenotype, explained in large part by expansion size, but whether there are features specific to individual genes remains uncertain.
Topics: Humans; Epilepsies, Myoclonic; Phenotype; Mutation; Myoclonic Epilepsies, Progressive; Japan; Pedigree; Myoclonus
PubMed: 36707971
DOI: 10.1111/epi.17519 -
Epilepsy Research Aug 2006Benign myoclonic epilepsy in infancy is a rare syndrome with just over 100 cases reported since the first syndromic description by Dravet and Bureau [Dravet, C., Bureau,... (Review)
Review
Benign myoclonic epilepsy in infancy is a rare syndrome with just over 100 cases reported since the first syndromic description by Dravet and Bureau [Dravet, C., Bureau, M., 1981. The benign myoclonic epilepsy of infancy. Rev. Elecroencephalogr. Neurophysiol. Clin. 11, 438-444]. This includes 23 infants with reflex myoclonic epilepsy whose inclusion in the wider syndrome remains debatable. We have reviewed the literature and present data from six further cases. Prognosis in respect of long term seizure freedom is good with sodium valproate being the most effective medication. However, the cognitive outcome is much less certain with cognitive problems present in one-third of children who have long term follow up. The cognitive outcome in reflex myoclonic epilepsy of infancy is normal in all reported cases. The term benign may be appropriately used to describe the myoclonic seizures but must be used cautiously when counselling families about cognitive outcome. The clinical heterogeneity within this syndrome suggests that there may be a variety of genetic mechanisms that underlie the presentation. Clinicians should distinguish the syndrome of reflex myoclonic epilepsy in infancy from benign myoclonic epilepsy of infancy and all patients should continue developmental follow up for several years after diagnosis.
Topics: Child Development; Child, Preschool; Cognition; Cognition Disorders; Electroencephalography; Epilepsies, Myoclonic; Female; Humans; Infant; Male; Prognosis; Seizures
PubMed: 16904290
DOI: 10.1016/j.eplepsyres.2006.01.014