Epilepsia, 44(9):12551256, 2003 Blackwell Publishing, Inc. C 2003 International League Against E... more Epilepsia, 44(9):12551256, 2003 Blackwell Publishing, Inc. C 2003 International League Against Epilepsy ... ∗ Antonio Gambardella, Ida Manna, ∗ Angelo Labate, Rosanna Chifari, Paolo Serra, ... Antonella La Russa, §Emilio LePiane, Rita Cittadella, Virginia Andreoli, § ...
ABSTRACT Introduction Juvenile myoclonic epilepsy (JME), also known as Janz syndrome, is a common... more ABSTRACT Introduction Juvenile myoclonic epilepsy (JME), also known as Janz syndrome, is a common form of generalized epilepsy of presumed genetic origin representing up to 10% of all epilepsy cases. Despite adequate anti-seizure medication (ASM) treatment, seizures persist in one-third of JME patients. Areas covered A literature search was conducted using Pubmed search on the topics of drug-resistant JME. Expert Opinion About 30% of JME patients are drug-resistant. Valproate (VPA) is considered the first-choice drug. In women of childbearing potential, levetiracetam (LEV) should represent the first-choice treatment. Alternative monotherapy or add-on therapy should be considered in subjects with resistant seizures after the exclusion of pseudo-drug resistance. The choice of the add-on ASM depends on the predominant seizure type. In subjects with persistent bilateral tonic-clonic seizures, LEV or lamotrigine should be firstly considered. In patients with difficult-to-treat myoclonic seizures, clonazepam or LEV are recommended. In case of persistent absences, ethosuximide should be considered. With appropriate selection and safeguards in place, VPA should remain available as an option in women of childbearing potential whose seizures are resistant to other treatments.
SummaryObjectiveAlthough many studies have attempted to describe treatment outcomes in patients w... more SummaryObjectiveAlthough many studies have attempted to describe treatment outcomes in patients with drug‐resistant epilepsy, results are often limited by the adoption of nonhomogeneous criteria and different definitions of seizure freedom. We sought to evaluate treatment outcomes with a newly administered antiepileptic drug (AED) in a large population of adults with drug‐resistant focal epilepsy according to the International League Against Epilepsy (ILAE) outcome criteria.MethodsThis is a multicenter, observational, prospective study of 1053 patients with focal epilepsy diagnosed as drug‐resistant by the investigators. Patients were assessed at baseline and 6, 12, and 18 months, for up to a maximum of 34 months after introducing another AED into their treatment regimen. Drug resistance status and treatment outcomes were rated according to ILAE criteria by the investigators and by at least two independent members of an external expert panel (EP).ResultsA seizure‐free outcome after ...
Background The GLA c.337T > C (p.Phe113Leu) is a known pathogenic variant associated to late-o... more Background The GLA c.337T > C (p.Phe113Leu) is a known pathogenic variant associated to late-onset Fabry disease phenotype with predominant cardiac manifestations. A founder effect was demonstrated in a large cohort in the Portuguese region of Guimarães. Herein we report an in-depth phenotype description of a cluster of five Southern Italy families. Methods Family pedigrees of five index males with the p.Phe113Leu variant were obtained and all at-risk relatives underwent biochemical and genetical screening test. Carriers of GLA p.Phe113Leu variant underwent subsequent multidisciplinary clinical and instrumental evaluation. Results Thirty-one (16 M, 15 F) individuals with p.Phe113Leu pathogenic variant were identified. Sixteen out of 31 patients (51.6%) had cardiac manifestations. Notably, myocardial fibrosis was found in 7/8 patients, of whom 2 were under 40 years. Stroke occurred in 4 patients. White matter lesions were detected in 12/19 patients and occurred in 2/10 of subjects...
The differential diagnosis of epileptic seizures (ES) and psychogenic non-epileptic seizures (PNE... more The differential diagnosis of epileptic seizures (ES) and psychogenic non-epileptic seizures (PNES) may be difficult, due to the lack of distinctive clinical features. The interictal electroencephalographic (EEG) signal may also be normal in patients with ES. Innovative diagnostic tools that exploit non-linear EEG analysis and deep learning (DL) could provide important support to physicians for clinical diagnosis. In this work, 18 patients with new-onset ES (12 males, 6 females) and 18 patients with video-recorded PNES (2 males, 16 females) with normal interictal EEG at visual inspection were enrolled. None of them was taking psychotropic drugs. A convolutional neural network (CNN) scheme using DL classification was designed to classify the two categories of subjects (ES vs. PNES). The proposed architecture performs an EEG time-frequency transformation and a classification step with a CNN. The CNN was able to classify the EEG recordings of subjects with ES vs. subjects with PNES wit...
We evaluated the use of felbamate in 379 adults and children with refractory epilepsies in an ope... more We evaluated the use of felbamate in 379 adults and children with refractory epilepsies in an open-label, compassionate clinical use setting. Prior to the termination of the program, because of reports of aplastic anemia, 351 patients had completed 2 months of treatment with felbamate at a dose of 2400-3600 mg/day for adults or 30-45 mg/kg/day for children. Of the 246 patients who had a diagnosis of therapy-refractory localization-related epilepsy with or without secondary generalization, 52% (126/246) achieved a seizure reduction of 50% or more, including 10% (25/246) who became seizure free. There was no difference in response rate between adults and children. Of the 80 patients who had a diagnosis of Lennox-Gastaut syndrome (LGS), 60% (48/80) achieved a seizure reduction of 50% or more, including 6% (5/80) who became seizure free. Of the 25 patients with a diagnosis of generalized epilepsy (other than LGS) or undetermined epilepsy whether focal or generalized, 60% (15/25) achieved a seizure reduction of 50% or more, including 12% (3/24) who became seizure free. The results of this uncontrolled study suggest that felbamate could be useful in patients with epilepsies which are refractory to other antiepileptic drugs after careful risk-benefit assessment and consideration of all circumstances involved.
Epilepsia, 44(9):12551256, 2003 Blackwell Publishing, Inc. C 2003 International League Against E... more Epilepsia, 44(9):12551256, 2003 Blackwell Publishing, Inc. C 2003 International League Against Epilepsy ... ∗ Antonio Gambardella, Ida Manna, ∗ Angelo Labate, Rosanna Chifari, Paolo Serra, ... Antonella La Russa, §Emilio LePiane, Rita Cittadella, Virginia Andreoli, § ...
ABSTRACT Introduction Juvenile myoclonic epilepsy (JME), also known as Janz syndrome, is a common... more ABSTRACT Introduction Juvenile myoclonic epilepsy (JME), also known as Janz syndrome, is a common form of generalized epilepsy of presumed genetic origin representing up to 10% of all epilepsy cases. Despite adequate anti-seizure medication (ASM) treatment, seizures persist in one-third of JME patients. Areas covered A literature search was conducted using Pubmed search on the topics of drug-resistant JME. Expert Opinion About 30% of JME patients are drug-resistant. Valproate (VPA) is considered the first-choice drug. In women of childbearing potential, levetiracetam (LEV) should represent the first-choice treatment. Alternative monotherapy or add-on therapy should be considered in subjects with resistant seizures after the exclusion of pseudo-drug resistance. The choice of the add-on ASM depends on the predominant seizure type. In subjects with persistent bilateral tonic-clonic seizures, LEV or lamotrigine should be firstly considered. In patients with difficult-to-treat myoclonic seizures, clonazepam or LEV are recommended. In case of persistent absences, ethosuximide should be considered. With appropriate selection and safeguards in place, VPA should remain available as an option in women of childbearing potential whose seizures are resistant to other treatments.
SummaryObjectiveAlthough many studies have attempted to describe treatment outcomes in patients w... more SummaryObjectiveAlthough many studies have attempted to describe treatment outcomes in patients with drug‐resistant epilepsy, results are often limited by the adoption of nonhomogeneous criteria and different definitions of seizure freedom. We sought to evaluate treatment outcomes with a newly administered antiepileptic drug (AED) in a large population of adults with drug‐resistant focal epilepsy according to the International League Against Epilepsy (ILAE) outcome criteria.MethodsThis is a multicenter, observational, prospective study of 1053 patients with focal epilepsy diagnosed as drug‐resistant by the investigators. Patients were assessed at baseline and 6, 12, and 18 months, for up to a maximum of 34 months after introducing another AED into their treatment regimen. Drug resistance status and treatment outcomes were rated according to ILAE criteria by the investigators and by at least two independent members of an external expert panel (EP).ResultsA seizure‐free outcome after ...
Background The GLA c.337T > C (p.Phe113Leu) is a known pathogenic variant associated to late-o... more Background The GLA c.337T > C (p.Phe113Leu) is a known pathogenic variant associated to late-onset Fabry disease phenotype with predominant cardiac manifestations. A founder effect was demonstrated in a large cohort in the Portuguese region of Guimarães. Herein we report an in-depth phenotype description of a cluster of five Southern Italy families. Methods Family pedigrees of five index males with the p.Phe113Leu variant were obtained and all at-risk relatives underwent biochemical and genetical screening test. Carriers of GLA p.Phe113Leu variant underwent subsequent multidisciplinary clinical and instrumental evaluation. Results Thirty-one (16 M, 15 F) individuals with p.Phe113Leu pathogenic variant were identified. Sixteen out of 31 patients (51.6%) had cardiac manifestations. Notably, myocardial fibrosis was found in 7/8 patients, of whom 2 were under 40 years. Stroke occurred in 4 patients. White matter lesions were detected in 12/19 patients and occurred in 2/10 of subjects...
The differential diagnosis of epileptic seizures (ES) and psychogenic non-epileptic seizures (PNE... more The differential diagnosis of epileptic seizures (ES) and psychogenic non-epileptic seizures (PNES) may be difficult, due to the lack of distinctive clinical features. The interictal electroencephalographic (EEG) signal may also be normal in patients with ES. Innovative diagnostic tools that exploit non-linear EEG analysis and deep learning (DL) could provide important support to physicians for clinical diagnosis. In this work, 18 patients with new-onset ES (12 males, 6 females) and 18 patients with video-recorded PNES (2 males, 16 females) with normal interictal EEG at visual inspection were enrolled. None of them was taking psychotropic drugs. A convolutional neural network (CNN) scheme using DL classification was designed to classify the two categories of subjects (ES vs. PNES). The proposed architecture performs an EEG time-frequency transformation and a classification step with a CNN. The CNN was able to classify the EEG recordings of subjects with ES vs. subjects with PNES wit...
We evaluated the use of felbamate in 379 adults and children with refractory epilepsies in an ope... more We evaluated the use of felbamate in 379 adults and children with refractory epilepsies in an open-label, compassionate clinical use setting. Prior to the termination of the program, because of reports of aplastic anemia, 351 patients had completed 2 months of treatment with felbamate at a dose of 2400-3600 mg/day for adults or 30-45 mg/kg/day for children. Of the 246 patients who had a diagnosis of therapy-refractory localization-related epilepsy with or without secondary generalization, 52% (126/246) achieved a seizure reduction of 50% or more, including 10% (25/246) who became seizure free. There was no difference in response rate between adults and children. Of the 80 patients who had a diagnosis of Lennox-Gastaut syndrome (LGS), 60% (48/80) achieved a seizure reduction of 50% or more, including 6% (5/80) who became seizure free. Of the 25 patients with a diagnosis of generalized epilepsy (other than LGS) or undetermined epilepsy whether focal or generalized, 60% (15/25) achieved a seizure reduction of 50% or more, including 12% (3/24) who became seizure free. The results of this uncontrolled study suggest that felbamate could be useful in patients with epilepsies which are refractory to other antiepileptic drugs after careful risk-benefit assessment and consideration of all circumstances involved.
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