A. T. Giallonardo

fMRI/EEG in paroxysmal activity elicited by elimination of central vision and fixation

Abstract—Using functional MRI (fMRI) with concurrent EEG monitoring the authors studied cortical activation associated with epileptiform discharges in three patients with fixation-off sensitivity. The EEG paroxysmal activity elicited by eliminating central vision correlated significantly with an increased blood oxygen level–dependent signal in the extrastriate cortex (Brodmann areas 19 and 37). fMRI provides a unique opportunity for localizing precisely the cortical areas generating paroxysmal activity in patients with fixation-off sensitivity.

Familial mesial temporal lobe epilepsy (FMTLE) : a clinical and genetic study of 15 Italian families.

AbstractIntroductionFamilial mesial temporal lobe epilepsy (FMTLE) is characterized by prominent psychic and autonomic seizures, often without hippocampal sclerosis (HS) or a previous history of febrile seizures (FS), and good prognosis. The genetics of this condition is largely unknown.We present the electroclinical and genetic findings of 15 MTLE Italian families.Patients and methodsFMTLE was defined when two or more first-degree relatives had epilepsy suggesting a mesial temporal lobe origin. The occurrence of seizures with auditory auras was considered an exclusion criterion. Patients underwent video-EEG recordings, 1.5-Tesla MRI particularly focused on hippocampal analysis, and neuropsychological evaluation. Genetic study included genotyping and linkage analysis of candidate loci at 4q, 18q, 1q, and 12q as well as screening for LGI1/Epitempin mutations.ResultsMost of the families showed an autosomal dominant inheritance pattern with incomplete penetrance. Fifty-four (32 F) affected individuals were investigated. Twenty-one (38.8 %) individuals experienced early FS. Forty-eight individuals fulfilled the criteria for MTLE. Epigastric/visceral sensation (72.9 %) was the most common type of aura, followed by psychic symptoms (35.4 %), and déjà vu (31.2 %). HS occurred in 13.8% of individuals, three of whom belonged to the same family. Prognosis of epilepsy was generally good. Genetic study failed to show LGI1/Epitempin mutations or significative linkage to the investigated loci.DiscussionFMTLE may be a more common than expected condition, clinically and genetically heterogeneous. Some of the reported families, grouped on the basis of a specific aura, may represent an interesting subgroup on whom to focus future linkage studies.

Intravenous Levetiracetam as first-line treatment of status epilepticus in the elderly.

Fattouch J, Di Bonaventura C, Casciato S, Bonini F, Petrucci S, Lapenta L, Manfredi M, Prencipe M, Giallonardo AT. Intravenous Levtiracetam as first‐line treatment of status epilepticus in the elderly. Acta Neurol Scand: 2010: 121: 418–421.
© 2010 John Wiley & Sons A/S.

Familial mesial temporal lobe epilepsies: clinical and genetic features.

Familial mesial temporal lobe epilepsy (FMTLE) was first described as a benign syndrome with prominent psychic and autonomic seizures and no association with hippocampal sclerosis (HS) or febrile seizures (FS). Better definition of the syndrome allowed identification of more heterogeneous phenotypes with mild to severe epileptic disorders, and a variable association with HS and FS. The genetics of these conditions is largely unknown and the hope for the future is that the identification of FMTLE genes will lead to more appropriate approaches for the diagnosis and treatment of TLE.

STRUCTURAL ANOMALY OF LEFT LATERAL TEMPORAL LOBE IN EPILEPSY DUE TO MUTATED LGI1

Autosomal dominant lateral temporal epilepsy (ADTLE) is a syndrome characterized by ictal auditory phenomena suggesting a lateral temporal lobe seizure onset and is associated with mutations in the leucine-rich, glioma inactivated 1 (LGI1) gene.1,2 The structure of the LGI1 protein includes, in the N-terminal portion, three leucine-rich repeats (LRR). The function of LGI1 and the mechanisms underlying epilepsy in patients with LGI1 mutations are not established. However, LGI1 is involved in the control of survival of neuroblastoma cell lines.3 This feature and the structural homology between LGI1 and other LRR proteins essential for the development of the CNS3 make it conceivable that LGI1 mutations could imply some structural abnormalities of the lateral temporal lobe as the substratum underlying partial epilepsy in ADTLE. Neuropathologic data are lacking and conventional MRI studies failed to show consistent findings in ADTLE.1,2 Voxel-based analyses enable detection of subtle regional differences in MR images.4,5 ### Methods. We performed voxel-based analyses of T1-weighted, diffusion-tensor, and magnetization transfer (MT) images of the brain in 8 patients (3 women and 5 men, mean age 49 ± 13 years) with ADTLE and LGI1 mutations and 24 healthy control subjects (14 women and 10 men, mean …

LGI1 gene mutation screening in sporadic partial epilepsy with auditory features.

Partial epilepsy with auditory features occasionally segregates in families as an autosomal dominant trait. In some families mutations in the leucine-rich glioma inactivated (LGI1) gene have been identified. Sporadic cases might harbour either denovo or low-penetrant LGI1 mutations, which will substantially alter the family risk for epilepsy.We selected sixteen sporadic patients with cryptogenic temporal lobe epilepsy and partial seizures with auditory features. We compared clinical features of these patients with those of published autosomal dominant family cases. We screened these patients for LGI1 mutations.Comparing the sporadic patients with the published familial cases no difference in either the primary auditory features or in the other associated epileptic manifestations was identified. Sequence analysis of the whole LGI1 gene coding regions in sporadic patients did not reveal changes in the LGI1 gene.The genetic analysis demonstrates that LGI1 is not a major gene for sporadic cases of partial epilepsy with auditory features at least in the Italian population. Screening of sporadic patients for LGI1 mutations appears not useful in genetic counselling of these patients.

Status epilepticus in epileptic patients: Related syndromes, precipitating factors, treatment and outcome in a video-EEG population-based study

INTRODUCTION Status epilepticus (SE) is frequently observed in epileptic patients. We reviewed a series of video-EEG documented SE to define the characteristics of SE in this population. MATERIALS AND METHODS Retrospective evaluation of 50 epileptic patients with SE, revision of the electro-clinical data and therapies, and definition of the semeiological subtypes, aetiology, outcome and related epileptic syndromes. RESULTS We identified 28 convulsive (19 focal and 9 generalized) and 22 non-convulsive (8 focal and 14 generalized) SE patients. In 13 patients, SE was situation-related (poor compliance, AED reduction, worsening seizures). In the remaining 37 patients, SE was related to the natural history of epilepsy (progression of underlying pathologies or intrinsic expression of epileptic syndromes); in these last cases, our results show a higher occurrence in cryptogenic frontal epilepsy (p=0.01). We identified two subgroups according to the duration of the event, i.e. SE lasting <12h and SE lasting >12h. Our results showed a worse response to therapy in SE lasting >12h (p=0.01), a better response to therapy in non-convulsive SE than in convulsive SE (p<0.05) and a relationship at statistical significance limit between a poor response to therapy/worse outcome and symptomatic epileptic syndromes (p=0.06). CONCLUSION SE in epileptic patients has a wide spectrum of electro-clinical features. It may be related to the withdrawal or reduction of AEDs, or may even be the expression of the evolution of epileptic syndromes. Response to therapy is dependent on early diagnosis and therapy.

Use of levetiracetam in treating epilepsy associated with other medical conditions

Objective –  This prospective, open‐label study was conducted to evaluate the effectiveness, tolerability, and safety of levetiracetam in patients with epilepsy in whom unfavorable metabolism, complex drug interactions, or direct toxic effects of antiepileptic drugs (AEDs) had caused a worsening of comorbid conditions.

Insight into epileptic and physiological déjà vu: from a multicentric cohort study

The presence of a continuum between physiological déjà vu (DV) and epileptic DV is still not known as well as epidemiological data in the Italian population. The aim was to identify the epidemiological distribution of DV in Italy, and secondly to look for specific features of DV able to discriminate between epileptic and non‐epileptic DV.

Validation Study of Italian Version of Inventory for DéJà vu Experiences Assessment (I-IDEA): A Screening Tool to Detect DéJà vu Phenomenon in Italian Healthy Individuals

The Inventory Déjà Vu Experiences Assessment (IDEA) is the only screening instrument proposed to evaluate the Déjà vu (DV) experience. Here, we intended to validate the Italian version of IDEA (I-IDEA) and at the same time to investigate the incidence and subjective qualities of the DV phenomenon in healthy Italian adult individuals on basis of an Italian multicentre observational study. In this study, we report normative data on the I-IDEA, collected on a sample of 542 Italian healthy subjects aging between 18–70 years (average age: 40) with a formal educational from 1–19 years. From September 2013 to March 2016, we recruited 542 healthy volunteers from 10 outpatient neurological clinics in Italy. All participants (i.e., family members of neurological patients enrolled, medical students, physicians) had no neurological or psychiatric illness and gave their informed consent to participate in the study. All subjects enrolled self-administered the questionnaire and they were able to complete I-IDEA test without any support. In total, 396 (73%) of the 542 healthy controls experienced the DV phenomenon. The frequency of DV was inversely related to age as well as to derealisation, jamais vu, precognitive dreams, depersonalization, paranormal activity, remembering dreams, travel frequency, and daydreams (all p < 0.012). The Italian version of IDEA maintains good properties, thus confirming that this instrument is reliable for detecting and characterising the DV phenomenon.