Idiopathic (genetic) generalized epilepsies with absences: clinical and electrographic characteristics and seizure outco
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ORIGINAL ARTICLE
Idiopathic (genetic) generalized epilepsies with absences: clinical and electrographic characteristics and seizure outcome Ali A. Asadi-Pooya 1,2,3
&
Maryam Homayoun 1
Received: 11 February 2020 / Accepted: 28 May 2020 # Fondazione Società Italiana di Neurologia 2020
Abstract Purpose We compared various syndromes of idiopathic (genetic) generalized epilepsy (IGE) with absences based on their demographic, clinical, and electroencephalographic (EEG) findings, and their seizure outcome. Methods In this retrospective study, all patients with a clinical diagnosis of childhood absence epilepsy (CAE), juvenile absence epilepsy (JAE), idiopathic epilepsy with phantom absences (PAs), and Jeavons syndrome (JS) were recruited at the outpatient epilepsy clinic at Shiraz University of Medical Sciences, from 2008 until 2019. Age, gender, age at seizure onset, seizure type(s), epilepsy risk factors, history of seizure-related injuries, EEG findings, and seizure outcome of all patients were registered routinely. Results Six hundred one patients with IGE were registered at our epilepsy clinic. Two hundred thirteen patients (35.4%) were diagnosed as having IGE with absences [111 patients (52.1%) had JAE, 82 patients (38.5%) had CAE, 12 people (5.6%) had JS, and eight patients (3.8%) had PA]. A history of experiencing generalized tonic-clonic seizures and a history of seizure-related injury were significantly different between the syndromes. There were no significant differences between the syndromes with regard to their EEG findings. Seizure outcome showed a trend to be different between the syndromes of IGE (p = 0.06). Conclusion Syndromes of IGE with absences are common occurrences at epilepsy clinics. Making a syndromic diagnosis could have significant clinical implications. In doing so, interictal EEG cannot differentiate between different syndromes of IGE and the key element in making a correct syndromic diagnosis is a detailed clinical history. Keywords Absence . Age . EEG . Epilepsy . Seizure
Introduction Idiopathic (genetic) generalized epilepsies (IGEs) are epilepsy syndromes with generalized seizures (i.e., generalized tonicclonic, absence, and/or myoclonic seizures), which are idiopathic in nature (i.e., a syndrome that is only epilepsy, with no underlying structural lesion or other neurological signs or symptoms); they are presumed to be genetic in nature [1, 2]. This encompasses several different syndromes diagnosed by strict * Ali A. Asadi-Pooya [email protected]
clinical and electroencephalographic (EEG) features [3, 4]. IGEs with a predominant seizure type of absences are classified under this terminology, considering their age at onset and other clinical features; they include childhood absence epilepsy (CAE), juvenile absence epilepsy (JAE), idiopathic epilepsy with phantom absences (PAs), and Jeavons syndrome (JS) (eyelid myoclonia with absences) [3, 4]. The latter two syndromes are not recognized by the International League Against Epilepsy (ILAE) yet [4]. Epidemiologic data concerni
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