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PURPOSE To delineate the clinical spectrum and patterns of evolution of epilepsy with gelastic seizures related to hypothalamic hamartoma (HH). PATIENTS AND METHODS We evaluated patients with HH, observed between 1986 and 2002 for whom at least one ictal video-EEG or EEG recording of gelastic seizures was available. RESULTS Six subjects (four male, two(More)
Dysfunction of the hypothalamic-pituitary-ovarian axis in epileptic females has been suggested in the latest years. To further elucidate this issue, we assessed reproductive endocrine function in 10 normally cycling, drug-free epileptic women and in 5 normal controls, evaluating the basal hormonal profile and luteinizing hormone (LH) pulsatility in the(More)
Reflex seizures and epilepsies represent an ancient human model to understand basic mechanisms of epilepsy. The increase of light stimulation makes this issue extremely actual and interesting. In addition, a lot of observations show the frequent occurrence of provoked seizures in malformations of cortical development and in recently defined conditions such(More)
BACKGROUND Autosomal dominant lateral temporal epilepsy (ADLTE) is characterized by focal seizures with auditory features or aphasia. Mutations in the LGI1 gene have been reported in up to 50% of ADLTE pedigrees. We report a family with temporal lobe epilepsy characterized by psychic symptoms associated with a novel LGI1 mutation. METHODS All participants(More)
Telephone-induced seizures have recently been described as a distinct form of idiopathic reflex epilepsy in which seizures are repeatedly and exclusively triggered by answering the telephone. 1 Typical auras consist of auditory or vertiginous symptoms and the inability to speak or understand spoken voices. These features, along with specific EEG ictal(More)
Hypothalamic hamartoma (HH) is the pathologic hallmark of a spectrum of epileptic conditions, ranging from a mild form of epilepsy, whose seizures are an urge to laugh without cognitive defects, to the fully developed syndrome of early onset gelastic seizures (GS) associated with precocious puberty and the evolution to a catastrophic epilepsy syndrome.(More)
Eyelid myoclonia with absences (EMA), or Jeavons syndrome, is a generalized epileptic condition clinically characterized by eyelid myoclonia (EM) with or without absences, eye closure-induced electroencephalography (EEG) paroxysms, and photosensitivity; in addition, rare tonic-clonic seizures may also occur. Although first described in 1977 and widely(More)
AIM To identify, among patients referred to our Epilepsy Center, those fulfilling eyelid myoclonia with absences (EMA) criteria and to evaluate their semiological, electroclinical and evolutive features. In addition, to examine some possible causes of underdiagnosis and to stress the role of video-EEG (VEEG) recording. MATERIALS AND METHODS Retrospective(More)