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1.
Seizure ; 85: 115-118, 2021 Feb.
Article in English | MEDLINE | ID: mdl-33453592

ABSTRACT

Epilepsy with Auditory Features (EAF) is a focal epilepsy syndrome mainly of unknown aetiology. LGI1 and RELN have been identified as the main cause of Autosomal Dominant EAF and anecdotally reported in non-familial cases. Pathogenic variants in SCN1A and DEPDC5 have also been described in a few EAF probands belonging to families with heterogeneous phenotypes and incomplete penetrance. We aimed to estimate the contribution of these genes to the disorder by evaluating the largest cohort of EAF. We included 112 unrelated EAF cases (male/female: 52/60) who underwent genetic analysis by next-generation sequencing (NGS) techniques. Thirty-three (29.5%) were familial cases. We identified a genetic diagnosis for 8% of our cohort, including pathogenic/likely pathogenic variants (4/8 novel) in LGI1 (2.7%, CI: 0.6-7.6); RELN (1.8%; CI: 0.2-6.3); SCN1A (2.7%; CI: 0.6-7.6) and DEPDC5 (0.9%; CI 0-4.9).This study shows that the contribution of each of the known genes to the overall disorder is limited and that the genetic background of EAF is still largely unknown. Our data emphasize the genetic heterogeneity of EAF and will inform the diagnosis and management of individuals with this disorder.


Subject(s)
Epilepsy, Frontal Lobe , Epileptic Syndromes , Female , Humans , Male , Mutation , Pedigree , Reelin Protein
2.
Epilepsy Behav ; 25(1): 32-5, 2012 Sep.
Article in English | MEDLINE | ID: mdl-22980078

ABSTRACT

INTRODUCTION: Seizures represent a potential source of accidents/death. Permission to drive may, therefore, be granted in a seizure-free period. Laws and regulations regarding this issue vary widely, and the onus of reporting seizures ultimately rests on the individual. Unfortunately, as some patients are unaware of their seizures, their reports may be unreliable. METHODS: In this retrospective study, we selected, from a group of 1100 consecutive patients, 57 cases (26 males/31 females; mean age: 42.5 years) in whom the AEEG documented ictal events (UIEs) not reported in a self-kept diary. By means of a simple questionnaire, we interviewed all these patients to collect information on driving licenses. We, thus, assessed how many of these patients (both drug resistant and seizure free) drove regularly. RESULTS: Our study shows a relatively large number of patients with epilepsy and UIEs. Fifteen patients suffered from idiopathic generalized epilepsy (IGE) while 42 had partial epilepsy (PE). The patients were seizure free in 21 cases and 36 had drug-resistant seizures. Many patients in both these subgroups had a driving license and drove normally (active driving in 12/36 drug-resistant patients and in 18/21 seizure-free patients). Worthy of note is the finding that an "apparently" seizure-free group of patients drove regularly. CONCLUSIONS: This study revealed a large number of patients (both drug resistant and seizure free) with AEEG-documented UIEs. This finding highlights the usefulness of AEEG in clinical practice as a means of more accurately ascertaining seizure freedom and supporting decisions involving the renewal or granting of a driving license.


Subject(s)
Automobile Driving/legislation & jurisprudence , Awareness , Epilepsy/physiopathology , Epilepsy/psychology , Licensure , Adult , Electroencephalography , Female , Humans , Male , Middle Aged , Retrospective Studies
3.
Epilepsy Behav ; 22(4): 799-803, 2011 Dec.
Article in English | MEDLINE | ID: mdl-22030535

ABSTRACT

Hashimoto's encephalopathy (HE), also known as steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT), is a rare condition whose pathogenesis is unknown, though autoimmune-mediated mechanisms are thought to be involved. The prevalent neurological manifestations of this disorder are epileptic seizures and psychocognitive disorders associated with EEG alterations. High anti-thyroid antibody titers (particularly in cerebrospinal fluid) and the effectiveness of steroid therapy are usually considered to be crucial elements in the diagnostic process. We describe a 19-year-old female patient who had been referred to the psychiatric unit because of behavioral disorders characterized predominantly by delirium with sexual content. She developed recurrent focal seizures characterized by atypical ictal semiology (repetitive forceful yawning) and a rare EEG pattern (recurrent seizures arising from the left temporal region without evident "encephalopathic" activity). The presence of anti-thyroperoxidase antibodies in her cerebrospinal fluid and a good response to steroids confirmed the diagnosis of HE. The atypical presentation in the case we describe appears to widen the electroclinical spectrum of HE and highlights its importance for differential diagnosis purposes in the neuropsychiatric setting.


Subject(s)
Brain Diseases/physiopathology , Epilepsies, Partial/physiopathology , Hashimoto Disease/physiopathology , Yawning/physiology , Encephalitis , Epilepsies, Partial/diagnosis , Female , Humans , Young Adult
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