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Advances in Neurology 2005
Review
Topics: Age of Onset; Brain Mapping; Diagnosis, Differential; Electroencephalography; Epilepsies, Myoclonic; Epilepsy, Absence; Female; Functional Laterality; Humans; Infant; Infant, Newborn; Male; Mortality; Psychomotor Performance; Seizures; Syndrome; Treatment Outcome
PubMed: 15508915
DOI: No ID Found -
Seizure Jan 2022
Topics: 14-3-3 Proteins; Electroencephalography; Epilepsies, Myoclonic; Humans; Infant; Mutation
PubMed: 34915349
DOI: 10.1016/j.seizure.2021.12.002 -
Advances in Neurology 2005
Review
Topics: Adult; Age of Onset; Chromosome Mapping; Electroencephalography; Electromyography; Epilepsies, Myoclonic; Evoked Potentials, Somatosensory; Family Health; Genetic Linkage; Genetic Testing; Humans; Japan; Pedigree
PubMed: 15508931
DOI: No ID Found -
Neurological Sciences : Official... Apr 2021
Topics: Humans; Lipodystrophy, Congenital Generalized; Myoclonic Epilepsies, Progressive
PubMed: 33089476
DOI: 10.1007/s10072-020-04780-0 -
Ryoikibetsu Shokogun Shirizu 2002
Review
Topics: Child; Child, Preschool; Diagnosis, Differential; Electroencephalography; Epilepsies, Myoclonic; Humans; Prognosis; Syndrome
PubMed: 12483838
DOI: No ID Found -
Journal of Paediatrics and Child Health Aug 1995Juvenile myoclonic epilepsy is a relatively common, though under diagnosed, form of epilepsy that commences in adolescence. The distinguishing symptoms, diagnosis and...
Juvenile myoclonic epilepsy is a relatively common, though under diagnosed, form of epilepsy that commences in adolescence. The distinguishing symptoms, diagnosis and medical management are discussed.
Topics: Adolescent; Age of Onset; Animals; Anticonvulsants; Child; Circadian Rhythm; Clonazepam; Cricetinae; Electroencephalography; Epilepsies, Myoclonic; Epilepsy, Tonic-Clonic; Female; Humans; Lamotrigine; Life Style; Pregnancy; Pregnancy Complications; Triazines; Valproic Acid
PubMed: 7576878
DOI: 10.1111/j.1440-1754.1995.tb00807.x -
Advances in Neurology 2005
Review
Topics: Anticonvulsants; Brain Mapping; Child, Preschool; Diagnosis, Differential; Electroencephalography; Epilepsies, Myoclonic; Family Health; Female; Humans; Infant; Infant, Newborn; Male; Prognosis; Reflex, Startle; Seizures; Sex Distribution
PubMed: 15508920
DOI: No ID Found -
Neurologia (Barcelona, Spain) Mar 2017Patients with Down syndrome (DS) who exhibit Alzheimer disease (AD) are associated with age. Both diseases with a common neuropathological basis have been associated...
INTRODUCTION
Patients with Down syndrome (DS) who exhibit Alzheimer disease (AD) are associated with age. Both diseases with a common neuropathological basis have been associated with late-onset myoclonic epilepsy (LOMEDS). This entity presents electroencephalogram features as generalized polyspike-wave discharges.
METHOD
We present a series of 11 patients with the diagnosis of DS or AD who developed myoclonic seizures or generalized tonic-clonic seizures. In all cases, clinical and neuroimaging studies and polygraph EEG monitoring was performed.
RESULTS
In all cases, cognitive impairment progressed quickly after the onset of epilepsy causing an increase in the degree of dependence. The most common finding in the EEG was a slowing of brain activity with theta and delta rhythms, plus intercritical generalized polyspike-waves were objectified in eight patients. In neuroimaging studies was found cerebral cortical atrophy. The most effective drug in this series was the levetiracetam.
CONCLUSIONS
The association of generalized epilepsy with elderly DS represents an epiphenomenon in evolution which is associated with a progressive deterioration of cognitive and motor functions. This epilepsy has some electroclinical characteristics and behaves as progressive myoclonic epilepsy, which is probably related to the structural changes that characterize the evolutionary similarity of DS with AD. Recognition of this syndrome is important, since it has prognostic implications and requires proper treatment.
Topics: Adult; Aged; Alzheimer Disease; Anticonvulsants; Down Syndrome; Electroencephalography; Epilepsies, Myoclonic; Female; Humans; Levetiracetam; Male; Middle Aged; Piracetam; Retrospective Studies; Valproic Acid
PubMed: 25661268
DOI: 10.1016/j.nrl.2014.12.008 -
Handbook of Clinical Neurology 2013Severe myoclonic epilepsy in infancy (SMEI) is a rare disease, characterized by febrile and afebrile, generalized and unilateral, clonic or tonic-clonic seizures that... (Review)
Review
Severe myoclonic epilepsy in infancy (SMEI) is a rare disease, characterized by febrile and afebrile, generalized and unilateral, clonic or tonic-clonic seizures that occur in the first year of life in an otherwise apparently normal infant. They are later associated with myoclonus, atypical absences, and partial seizures. Developmental delay becomes apparent within the second year of life and is followed by definite cognitive impairment and personality disorders of variable intensity. In the borderline form, children do not present with myoclonic symptoms but have the same general picture. SMEI is a channelopathy and the genetic studies have shown a mutation in the SCN1A gene in 70 to 80% of the patients, including the borderline forms. At present, there are no well-established correlations between genotype and phenotype. The electroencephalograms, often normal at the onset, display both generalized and focal anomalies, without a specific electroencephalographic pattern. As a rule, neuroimaging is normal. All seizure types are resistant to antiepileptic drugs and status epilepticus is frequent. Some drugs have been shown to aggravate the seizures and must be avoided. Two recent drugs have been proved to partially control the convulsive seizures and the status epilepticus. Therefore, it is crucial to diagnose this epilepsy soon after its onset in order to prescribe the most appropriate treatment.
Topics: Diagnosis, Differential; Electroencephalography; Epilepsies, Myoclonic; Humans
PubMed: 23622210
DOI: 10.1016/B978-0-444-52891-9.00065-8 -
Epilepsia 2003Understanding the latest advances in the molecular genetics of the epilepsies is important, as it provides a basis for comprehending the new practice of epileptology.... (Review)
Review
Understanding the latest advances in the molecular genetics of the epilepsies is important, as it provides a basis for comprehending the new practice of epileptology. Epilepsies have traditionally been classified and subtyped on the basis of clinical and neurophysiologic concepts. However, the complexity and variability of phenotypes and overlapping clinical features limit the resolution of phenotype-based classification and confound epilepsy nosology. Identification of tightly linked epilepsy DNA markers and discovery of epilepsy-causing mutations provide a basis for refining the classification of epilepsies. Recent discoveries regarding the genetics surrounding certain epilepsy types (including Lafora's progressive myoclonic epilepsy, the severe myoclonic epilepsy of infancy of Dravet, and idiopathic generalized epilepsies) may be the beginning of a better understanding of how rare Mendelian epilepsy genes and their genetic architecture can explain some complexities of the common epilepsies.
Topics: Epilepsies, Myoclonic; Humans
PubMed: 14641567
DOI: 10.1046/j.1528-1157.44.s11.2.x