Epilepsy with Typical Absence Seizures with Onset During the First Year of Life

Cavazzuti, G. B.; Ferrari, Fabrizio; Galli, Vanna; Benatti, A

doi:10.1111/j.1528-1157.1989.tb05342.x

Cited by 33 publications

(37 citation statements)

References 4 publications

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“…Age at onset was unusually early (range, 3 months to 3 years 6 months; average, 16 months), with four children having their first episodes within the first year of life and the remaining two by age 3 years 6 months. Onset in the first year of life had been reported only once before (12), and onset in the second year also is very rare (13,14). Resistance to multiple appropriate drugs was seen in five children, in four of whom absences improved remarkably when ESM was added.…”

Section: Discussionmentioning

confidence: 99%

Early‐onset Absence Epilepsy and Paroxysmal Dyskinesia

Guerrini

Sánchez-Carpintero

Deonna³

et al. 2002

Epilepsia

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Summary:Purpose: To report on the association of childhood absence epilepsy and paroxysmal dyskinesia (PD).Methods: We describe six patients aged 6 to 27 years (mean, 14 years) who were identified in five centers participating in a European study group. Patients had been followed up clinically from the first symptoms and had been studied with video-EEG recordings of absence seizures, videotaping of dyskinetic attacks, and brain magnetic resonance imaging (MRI).Results: Four patients were sporadic, and two were siblings. Age at onset of absence seizures was unusually early (range, 3 months to 3 years 6 months; mean, 16 months), with four children having their first episodes within the first year of life, and the remaining two by age 3 years 6 months. Resistance to multiple appropriate drugs was seen in five children, in four of whom absences improved remarkably when ethosuximide was added. Absences remitted between age 8 and 13 years in the three patients in whom follow-up was long enough. Different types of PD were seen including paroxysmal kinesigenic dyskinesia (one patient), paroxysmal exercise-induced dystonia (three patients), and paroxysmal tonic upgaze (two siblings). In most patients, PD appeared at a later age than, co-occurred with, and outlasted absence seizures. Only in the two siblings with tonic upgaze, dyskinetic attacks had an earlier onset. PD improved with increasing age and did not usually produce severe disability.Conclusions: There is a widening spectrum of epilepsy and PD syndromes, within which epilepsy has the characteristics of the common idiopathic syndromes, with some atypical features.

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Section: Discussionmentioning

confidence: 99%

Early‐onset Absence Epilepsy and Paroxysmal Dyskinesia

Guerrini

Sánchez-Carpintero

Deonna³

et al. 2002

Epilepsia

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“…Several varieties of absence syndromes are differentiated from the typical CAE that occurs between 4 and 10 years of age and that remits in adolescence. These absence syndromes are absence epilepsy of early childhood starting before 5 years of age (49,50); MAE, in which myoclonias occur simultaneously with absence seizures (21,22); eyelid myoclonia with absences (23)(24)(25); CAE that persists into adulthood (29)(30)(31)(51)(52)(53)(54); and CAE that evolves into JME (34,35). Pyknoleptic CAEs persisting into adolescence and adulthood with grand mal seizures are reported to occur in 12-32% of all absence cases (29,51,52,55,56).…”

Section: Absencesmentioning

confidence: 99%

Seizures of Idiopathic Generalized Epilepsies

et al. 2005

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Summary:Idiopathic generalized epilepsies (IGEs) comprise at least 40% of epilepsies in the United States, 20% in Mexico, and 8% in Central America. Here, we review seizure phenotypes across IGE syndromes, their response to treatment and advances in molecular genetics that influence nosology. Our review included the Medline database from 1945 to 2005 and our prospectively collected Genetic Epilepsy Studies (GENESS) Consortium database. Generalized seizures occur with different and similar semiologies, frequencies, and patterns, ages at onset, and outcomes in different IGEs, suggesting common neuroanatomical pathways for seizure phenotypes. However, the same seizure phenotypes respond differently to the same treatments in different IGEs, suggesting different molecular defects across syndromes. De novo mutations in SCN1A in sporadic Dravet syndrome and germline mutations in SCN1A, SCN1B, and SCN2A in generalized epilepsies with febrile seizures plus have unraveled the heterogenous myoclonic epilepsies of infancy and early childhood. Mutations in GABRA1, GABRG2, and GABRB3 are associated with absence seizures, while mutations in CLCN2 and myoclonin/EFHC1 substantiate juvenile myoclonic epilepsy as a clinical entity. Refined understanding of seizure phenotypes, their semiology, frequencies, and patterns together with the identification of molecular lesions in IGEs continue to accelerate the development of molecular epileptology.

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“…Onset is commonly between 12 and 36 months (5,6,9–16), but in a few infants, it starts earlier (7–9,11). Both sexes appear equally affected (5,7,8,11–16).…”

Section: Demographic and Electroclinical Datamentioning

confidence: 99%

“…Although lowest age at onset compatible with CAE is uncertain, children with TAS starting from a few months to 4 years of age have been reported in literature (4–16). Some authors believe that TAS in this age group may be merely a common denominator of various IGEs (4,17).…”

Section: Introductionmentioning

confidence: 99%

“…Some authors believe that TAS in this age group may be merely a common denominator of various IGEs (4,17). Nevertheless, there are reports supporting the existence of a distinct early childhood epileptic syndrome primarily characterized by TAS, normal early psychomotor development, good antiepileptic drug (AED) seizure control and normal cognitive outcome (5–16).…”

Section: Introductionmentioning

confidence: 99%

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