The Experts below are selected from a list of 1038 Experts worldwide ranked by ideXlab platform
Laurence A Bindoff - One of the best experts on this subject based on the ideXlab platform.
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polg1 mutations cause a syndromic epilepsy with occipital lobe predilection
Brain, 2008Co-Authors: Bernt A Engelsen, Charalampos Tzoulis, Bjorn Karlsen, Atle Lillebo, Liv Marie Laegreid, Jan Aasly, Massimo Zeviani, Laurence A BindoffAbstract:The epileptic semiology of 19 patients (from 15 families) with mitochondrial disease due to mutations in the POLG1 gene is presented. The patients were either homozygous for the 1399G > A (p.A467T) or 2243G > C (p.W748S) mutations or compound heterozygotes for these two mutations. While the clinical features have been reviewed, detailed analysis of their epilepsy is presented for the first time. Irrespective of genotype, patients developed an epileptic syndrome with initial features of occipital lobe epilepsy. Occipital Seizure phenomena included flickering coloured light, sometimes persisting for weeks, months or even years, ictal visual loss, horizontal/vertical nystagmus or oculoclonus, dysmorphopsia, micro-/macropsia and palinopsia. Most patients developed Simple Partial Seizure phenomena with motor symptoms suggesting frontal lobe Seizure initiation or spread. Simple and complex Partial Seizures, clonic- and/or myoclonic Seizures with epilepsia Partialis continua and frequent convulsive status epilepticus were observed in this syndrome that appears to be a symptomatic and secondary generalized or multifocal epilepsy with focal occipital predilection. The mean age of Seizure presentation was 18.4 years (6-58 years). All patients developed status epilepticus and 11 patient deaths were, all related to prolonged convulsive status epilepticus, including two with liver failure apparently precipitated by treatment with sodium valproate.
Kazuichi Yagi - One of the best experts on this subject based on the ideXlab platform.
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absence of Simple Partial Seizure in temporal lobe epilepsy its diagnostic and prognostic significance
Epilepsy Research, 2000Co-Authors: Yushi Inoue, Tadahiro Mihara, Kazumi Matsuda, Takayasu Tottori, Toshiaki Otsubo, Kazuichi YagiAbstract:The diagnostic and prognostic significance of the absence of Simple Partial Seizures (SPS) immediately preceding complex Partial Seizures (CPS) was examined in patients with temporal lobe epilepsy. The status of self-reported SPS in 193 patients with temporal lobe epilepsy who had surgical therapy more than 2 years ago was reviewed. Before surgery, 37 patients never experienced SPS before CPS (Group A), 156 patients either always or occasionally had SPS before CPS (Group B). The frequency of mesial temporal sclerosis (MTS) was lower and the age at onset of epilepsy was higher in Group A. The Seizure focus was in the language-dominant temporal lobe in 73% of the cases in Group A, compared with 40% in Group B. The surgical outcome did not differ between the two groups. The findings suggest that temporal lobe Seizures without preceding SPS tend to originate in the language-dominant temporal lobe that contains a pathologic etiology other than MTS, especially in the lateral temporal lobe. The surgical outcome in patients without SPS is similar to that in patients with SPS.
Bernt A Engelsen - One of the best experts on this subject based on the ideXlab platform.
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polg1 mutations cause a syndromic epilepsy with occipital lobe predilection
Brain, 2008Co-Authors: Bernt A Engelsen, Charalampos Tzoulis, Bjorn Karlsen, Atle Lillebo, Liv Marie Laegreid, Jan Aasly, Massimo Zeviani, Laurence A BindoffAbstract:The epileptic semiology of 19 patients (from 15 families) with mitochondrial disease due to mutations in the POLG1 gene is presented. The patients were either homozygous for the 1399G > A (p.A467T) or 2243G > C (p.W748S) mutations or compound heterozygotes for these two mutations. While the clinical features have been reviewed, detailed analysis of their epilepsy is presented for the first time. Irrespective of genotype, patients developed an epileptic syndrome with initial features of occipital lobe epilepsy. Occipital Seizure phenomena included flickering coloured light, sometimes persisting for weeks, months or even years, ictal visual loss, horizontal/vertical nystagmus or oculoclonus, dysmorphopsia, micro-/macropsia and palinopsia. Most patients developed Simple Partial Seizure phenomena with motor symptoms suggesting frontal lobe Seizure initiation or spread. Simple and complex Partial Seizures, clonic- and/or myoclonic Seizures with epilepsia Partialis continua and frequent convulsive status epilepticus were observed in this syndrome that appears to be a symptomatic and secondary generalized or multifocal epilepsy with focal occipital predilection. The mean age of Seizure presentation was 18.4 years (6-58 years). All patients developed status epilepticus and 11 patient deaths were, all related to prolonged convulsive status epilepticus, including two with liver failure apparently precipitated by treatment with sodium valproate.
Hugh Rickards - One of the best experts on this subject based on the ideXlab platform.
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what makes a Simple Partial Seizure complex
Epilepsy & Behavior, 2011Co-Authors: Andrea E Cavanna, Hugh RickardsAbstract:Abstract The assessment of ictal consciousness has been the landmark criterion for the differentiation between Simple and complex Partial Seizures over the last three decades. After review of the historical development of the concept of “complex Partial Seizure,” the difficulties surrounding the Simple versus complex dichotomy are addressed from theoretical, phenomenological, and neurophysiological standpoints. With respect to consciousness, careful analysis of ictal semiology shows that both the general level of vigilance and the specific contents of the conscious state can be selectively involved during Partial Seizures. Moreover, recent neuroimaging findings, coupled with classic electrophysiological studies, suggest that the neural substrate of ictal alterations of consciousness is twofold: focal hyperactivity in the limbic structures generates the complex psychic phenomena responsible for the altered contents of consciousness, and secondary disruption of the network involving the thalamus and the frontoparietal association cortices affects the level of awareness. These data, along with the localization information they provide, should be taken into account in the formulation of new criteria for the classification of Seizures with focal onset.
Yushi Inoue - One of the best experts on this subject based on the ideXlab platform.
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absence of Simple Partial Seizure in temporal lobe epilepsy its diagnostic and prognostic significance
Epilepsy Research, 2000Co-Authors: Yushi Inoue, Tadahiro Mihara, Kazumi Matsuda, Takayasu Tottori, Toshiaki Otsubo, Kazuichi YagiAbstract:The diagnostic and prognostic significance of the absence of Simple Partial Seizures (SPS) immediately preceding complex Partial Seizures (CPS) was examined in patients with temporal lobe epilepsy. The status of self-reported SPS in 193 patients with temporal lobe epilepsy who had surgical therapy more than 2 years ago was reviewed. Before surgery, 37 patients never experienced SPS before CPS (Group A), 156 patients either always or occasionally had SPS before CPS (Group B). The frequency of mesial temporal sclerosis (MTS) was lower and the age at onset of epilepsy was higher in Group A. The Seizure focus was in the language-dominant temporal lobe in 73% of the cases in Group A, compared with 40% in Group B. The surgical outcome did not differ between the two groups. The findings suggest that temporal lobe Seizures without preceding SPS tend to originate in the language-dominant temporal lobe that contains a pathologic etiology other than MTS, especially in the lateral temporal lobe. The surgical outcome in patients without SPS is similar to that in patients with SPS.