Gaetano Gorgone

Hyperhomocysteinemia in epileptic patients on new antiepileptic drugs.

Purpose:  Older enzyme‐inducing antiepileptic drugs (AEDs) may induce supraphysiologic plasma concentrations of total (t) homocysteine (Hcy). The aim of the present study was to investigate the effect of new AEDs on plasma tHcy levels.

Screening for C677T and A1298C MTHFR polymorphisms in patients with epilepsy and risk of hyperhomocysteinemia.

Hyperhomocysteinemia can result from decreased methylenetetrahydrofolate reductase (MTHFR) enzyme activity, owing to genetic polymorphisms and/or inadequate folate intake. This study was aimed at investigating the prevalence of C677T and A1298C MTHFR polymorphisms, and their impact on hyperhomocysteinemia in 95 epileptic patients and 98 controls. Double gradient-denaturing gradient gel electrophoresis screening revealed that the frequency of T677 polymorphic allele was similar between cases and controls (46.3% vs 42.3%), whereas that of C1298 allele was significantly higher in patients (30.5% vs 19.4%, p<0.05). Significant differences between the two groups were also found for the frequencies of genotypes AA1298 (46.3% in cases vs 67.3% in controls, p<0.01) and AC1298 (46.3% in cases vs 26.6% in controls, p<0.01). Other genotype frequencies did not show any statistically significant differences. Haplotype frequencies significantly differed between the two groups. The CT677/AC1298 diplotype was significantly more frequent in epileptic patients than in controls (32.6% vs 18.4%, p<0.05). Patients treated with enzyme-inducing antiepileptic drugs, having this diplotype and concomitant low folate concentration (i.e., <3.4 nmol/L), exhibited plasma homocysteine levels significantly higher than normal values (27.1±2.44 µmol/L, p<0.001). This increase, however, was lower than that observed in folate-deficient patients with diplotype TT677/AA1298 (41.3±3.41 µmol/L, p<0.001). Indeed, these two diplotypes could be regarded as risk factors for hyperhomocysteinemia. Conversely, we found that the CC677/AA1298 diplotype was significantly more frequentin controls (p<0.01), suggesting a protective role. Our study suggests that both C677T and A1298C MTHFR polymorphisms should be examined when assessing genetic risk factors of hyperhomocysteinemia in epilepsy.

Hyperhomocysteinemia in patients with epilepsy: Does it play a role in the pathogenesis of brain atrophy? A preliminary report

Purpose:  Brain atrophy (BA) is observed in 20–50% of patients with epilepsy. Hyper‐total‐homocysteinemia (hyper‐tHcy), which occurs in 10–40% of patients, is considered to be a risk factor for cardiovascular diseases and BA. The present study was aimed at investigating the possible association of hyper‐tHcy with BA in a population of patients with epilepsy.

Palinopsia in patients with migraine: A case-control study

Objectives: This study was aimed at investigating the frequency of the visual phenomenon of palinopsia (visual perseveration) in patients with migraine. Methods: We interviewed 63 patients with migraine with aura (MwA), 137 patients with migraine without aura (MwoA) and 226 sex-age-matched healthy control subjects using an ad hoc structured interview/questionnaire. The interview was divided into four classes of variables for statistical testing. Results: Palinopsia occurred in 19/200 patients (9.5%); of them 10/63 had MwA and 9/137 MwoA (14.2% vs 6.6%, chi = 9.7, degrees of freedom = 1, p = 0.002). Patients with palinopsia had a significantly lower migraine attack frequency than those without this visual phenomenon (4.3 ± 0.3 vs 14.4 ± 0.2, z = 7.1, p < 0.0001). No healthy control subjects complained of palinopsia according to the structured interview/questionnaire. Discussion: Palinopsia is probably under-diagnosed in patients with migraine. Further investigations are needed to assess whether migraineurs are particularly susceptible to the development of recurrent episodes of visual perseveration.

Acute neonatal encephalopathy and seizures recurrence: A combined aEEG/EEG study

PURPOSE To evaluate amplitude-integrated EEG (aEEG) in comparison with conventional (cEEG) for the identification of electrographic seizures in neonates with acute neonatal encephalopathies. METHODS Thirty-one conventional cEEG/aEEG long-term recordings from twenty-eight newborns were reviewed in order to assess the electrographic seizure detection rate and recurrence in newborns. Two paediatric neurologists and one neonatologist, blinded to the raw full array cEEG, were asked to mark any events suspected to be an electrographic seizures on aEEG. They were asked to decide if the displayed aEEG trace showed the pattern of a single seizure (SS), repetitive seizures (RS) or status epilepticus (SE). Their ability to recognize electrographic seizures on aEEG was compared to seizures identified on full array cEEG. RESULTS 25 of the 31 long-term cEEGs recordings showed electrographic seizures. The two paediatric neurologists and the neonatologist identified SE in 100% of the reviewed traces using aEEG alone while they identified 49.4% and 37.5% of electrographic seizures using aEEG alone. Overall, the correct identification ranged from 23.5% to 30.7% for SS and 66% for RS. The inter-observer agreement (k) for the identification of SE for the two paediatric neurologists and the neonatologist was 1.0. Overall the inter-observer agreement (k) for the detection of SS, RS and SE of the two paediatric neurologists was 0.91. CONCLUSIONS In our study the observers identified SE in 100% of the reviewed traces using raw aEEG alone, thus aEEG might represent a useful tool to detect SE in the setting of NICU. SS may not be reliably identified using aEEG alone. Simultaneous recording of the raw cEEG/aEEG provides a good level of sensitivity for the detection of neonatal electrographic seizures.