The Experts below are selected from a list of 18972 Experts worldwide ranked by ideXlab platform
Virginie Lambrecq - One of the best experts on this subject based on the ideXlab platform.
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Understanding Lennox–Gastaut syndrome: insights from Focal Epilepsy patients with Lennox–Gastaut features
Journal of Neurology, 2017Co-Authors: Sophie Dupont, Virginie Lambrecq, Vincent Navarro, Claude Adam, Raluca Banica-wolters, Isabelle An-gourfinkel, Vi-huong Nguyen-michelAbstract:To delineate the clinical and EEG features of adults with Focal Epilepsy associated with a generalized paroxysmal fast activity (GPFA) pattern on EEG who developed refractory seizures, notably drop attacks, but do not fulfill the classical triad for the diagnosis of Lennox–Gastaut syndrome (LGS) and provide further insight into LGS mechanisms. Among 957 patients admitted to video-EEG monitoring between 2002 and 2015, we retrospectively research adult patients with refractory Focal Epilepsy, drop attacks and GPFA on EEG. We collected demographic, anamnestic, and clinical data from medical records. We reviewed for all patients the interictal and ictal video-EEG recordings. We identified ten patients with Focal Epilepsy and electro-clinical features of LGS. As compared to classical LGS patients, our patients: (1) began Epilepsy later (15.4 ± 8 years); (2) exhibited exclusively Focal onset seizures, including drop attacks seizures linked to Focal asymmetrical tonic posturing seizures; (3) had a stable cognition over time and (4) evolved favourably with a good secondary response to treatments in 80% of cases. Interestingly, all patients exhibited apparent diffuse interictal and ictal EEG abnormalities but a detailed analysis revealed that 50% had asymmetrical GPFA and 70% secondary bilateral synchrony processes. We may hypothesize here that a process of “secondary LGS” occurred which produced a worsening of seizures with the apparition of drop attacks and GPFA on EEG. This study brings arguments to consider that some cases of LGS could be linked to the development of a “secondary epileptic network” driven by a primary Focal epileptic zone.
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understanding lennox gastaut syndrome insights from Focal Epilepsy patients with lennox gastaut features
Journal of Neurology, 2017Co-Authors: Sophie Dupont, Raluca Banicawolters, Isabelle Angourfinkel, Virginie Lambrecq, Vincent Navarro, Claude Adam, Vihuong NguyenmichelAbstract:To delineate the clinical and EEG features of adults with Focal Epilepsy associated with a generalized paroxysmal fast activity (GPFA) pattern on EEG who developed refractory seizures, notably drop attacks, but do not fulfill the classical triad for the diagnosis of Lennox–Gastaut syndrome (LGS) and provide further insight into LGS mechanisms. Among 957 patients admitted to video-EEG monitoring between 2002 and 2015, we retrospectively research adult patients with refractory Focal Epilepsy, drop attacks and GPFA on EEG. We collected demographic, anamnestic, and clinical data from medical records. We reviewed for all patients the interictal and ictal video-EEG recordings. We identified ten patients with Focal Epilepsy and electro-clinical features of LGS. As compared to classical LGS patients, our patients: (1) began Epilepsy later (15.4 ± 8 years); (2) exhibited exclusively Focal onset seizures, including drop attacks seizures linked to Focal asymmetrical tonic posturing seizures; (3) had a stable cognition over time and (4) evolved favourably with a good secondary response to treatments in 80% of cases. Interestingly, all patients exhibited apparent diffuse interictal and ictal EEG abnormalities but a detailed analysis revealed that 50% had asymmetrical GPFA and 70% secondary bilateral synchrony processes. We may hypothesize here that a process of “secondary LGS” occurred which produced a worsening of seizures with the apparition of drop attacks and GPFA on EEG. This study brings arguments to consider that some cases of LGS could be linked to the development of a “secondary epileptic network” driven by a primary Focal epileptic zone.
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familial Focal Epilepsy with Focal cortical dysplasia due to depdc5 mutations
Annals of Neurology, 2015Co-Authors: Stephanie Baulac, Dang Khoa Nguyen, Saeko Ishida, Elise Marsan, Catherine Miquel, Arnaud Biraben, Doug Nordli, Patrick Cossette, Sylvie Nguyen, Virginie LambrecqAbstract:Objective The DEPDC5 (DEP domain-containing protein 5) gene, encoding a repressor of the mTORC1 signaling pathway, has recently emerged as a major gene mutated in familial Focal epilepsies. We aimed to further extend the role of DEPDC5 to Focal cortical dysplasias (FCDs). Methods Seven patients from 4 families with DEPDC5 mutations and Focal Epilepsy associated with FCD were recruited and investigated at the clinical, neuroimaging, and histopathological levels. The DEPDC5 gene was sequenced from genomic blood and brain DNA. Results All patients had drug-resistant Focal Epilepsy, 5 of them underwent surgery, and 1 had a brain biopsy. Electroclinical phenotypes were compatible with FCD II, although magnetic resonance imaging (MRI) was typical in only 4 cases. Histopathology confirmed FCD IIa in 2 patients (including 1 MRI-negative case) and showed FCD I in 2 other patients, and remained inconclusive in the last 2 patients. Three patients were seizure-free postsurgically, and 1 had a worthwhile improvement. Sequencing of blood DNA revealed truncating DEPDC5 mutations in all 4 families; 1 mutation was found to be mosaic in an asymptomatic father. A brain somatic DEPDC5 mutation was identified in 1 patient in addition to the germline mutation. Interpretation Germline, germline mosaic, and brain somatic DEPDC5 mutations may cause Epilepsy associated with FCD, reinforcing the link between mTORC1 pathway and FCDs. Similarly to other mTORopathies, a “2-hit” mutational model could be responsible for cortical lesions. Our study also indicates that Epilepsy surgery is a valuable alternative in the treatment of drug-resistant DEPDC5-positive Focal epilepsies, even if the MRI is unremarkable.
Andre Franke - One of the best experts on this subject based on the ideXlab platform.
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mutations in grin2a cause idiopathic Focal Epilepsy with rolandic spikes
Nature Genetics, 2013Co-Authors: Johannes R Lemke, Eva M Reinthaler, Isabelle Steiner, Michael Nothnagel, Michael Alber, Kirsten Geider, Bodo Laube, Michael Schwake, Katrin Finsterwalder, Andre FrankeAbstract:Sarah von Spiczak, Holger Lerche and colleagues identify mutations in GRIN2A that cause idiopathic Focal Epilepsy with rolandic spikes.
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Mutations in GRIN2A cause idiopathic Focal Epilepsy with rolandic spikes
Nature Genetics, 2013Co-Authors: Johannes R Lemke, Eva M Reinthaler, Isabelle Steiner, Michael Nothnagel, Michael Alber, Kirsten Geider, Bodo Laube, Michael Schwake, Katrin Finsterwalder, Andre FrankeAbstract:Sarah von Spiczak, Holger Lerche and colleagues identify mutations in GRIN2A that cause idiopathic Focal Epilepsy with rolandic spikes. Idiopathic Focal Epilepsy (IFE) with rolandic spikes is the most common childhood Epilepsy, comprising a phenotypic spectrum from rolandic Epilepsy (also benign Epilepsy with centrotemporal spikes, BECTS) to atypical benign partial Epilepsy (ABPE), Landau-Kleffner syndrome (LKS) and epileptic encephalopathy with continuous spike and waves during slow-wave sleep (CSWS)^ 1 , 2 . The genetic basis is largely unknown. We detected new heterozygous mutations in GRIN2A in 27 of 359 affected individuals from 2 independent cohorts with IFE (7.5%; P = 4.83 × 10^−18, Fisher's exact test). Mutations occurred significantly more frequently in the more severe phenotypes, with mutation detection rates ranging from 12/245 (4.9%) in individuals with BECTS to 9/51 (17.6%) in individuals with CSWS ( P = 0.009, Cochran-Armitage test for trend). In addition, exon-disrupting microdeletions were found in 3 of 286 individuals (1.0%; P = 0.004, Fisher's exact test). These results establish alterations of the gene encoding the NMDA receptor NR2A subunit as a major genetic risk factor for IFE.
Vincent Navarro - One of the best experts on this subject based on the ideXlab platform.
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Understanding Lennox–Gastaut syndrome: insights from Focal Epilepsy patients with Lennox–Gastaut features
Journal of Neurology, 2017Co-Authors: Sophie Dupont, Virginie Lambrecq, Vincent Navarro, Claude Adam, Raluca Banica-wolters, Isabelle An-gourfinkel, Vi-huong Nguyen-michelAbstract:To delineate the clinical and EEG features of adults with Focal Epilepsy associated with a generalized paroxysmal fast activity (GPFA) pattern on EEG who developed refractory seizures, notably drop attacks, but do not fulfill the classical triad for the diagnosis of Lennox–Gastaut syndrome (LGS) and provide further insight into LGS mechanisms. Among 957 patients admitted to video-EEG monitoring between 2002 and 2015, we retrospectively research adult patients with refractory Focal Epilepsy, drop attacks and GPFA on EEG. We collected demographic, anamnestic, and clinical data from medical records. We reviewed for all patients the interictal and ictal video-EEG recordings. We identified ten patients with Focal Epilepsy and electro-clinical features of LGS. As compared to classical LGS patients, our patients: (1) began Epilepsy later (15.4 ± 8 years); (2) exhibited exclusively Focal onset seizures, including drop attacks seizures linked to Focal asymmetrical tonic posturing seizures; (3) had a stable cognition over time and (4) evolved favourably with a good secondary response to treatments in 80% of cases. Interestingly, all patients exhibited apparent diffuse interictal and ictal EEG abnormalities but a detailed analysis revealed that 50% had asymmetrical GPFA and 70% secondary bilateral synchrony processes. We may hypothesize here that a process of “secondary LGS” occurred which produced a worsening of seizures with the apparition of drop attacks and GPFA on EEG. This study brings arguments to consider that some cases of LGS could be linked to the development of a “secondary epileptic network” driven by a primary Focal epileptic zone.
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understanding lennox gastaut syndrome insights from Focal Epilepsy patients with lennox gastaut features
Journal of Neurology, 2017Co-Authors: Sophie Dupont, Raluca Banicawolters, Isabelle Angourfinkel, Virginie Lambrecq, Vincent Navarro, Claude Adam, Vihuong NguyenmichelAbstract:To delineate the clinical and EEG features of adults with Focal Epilepsy associated with a generalized paroxysmal fast activity (GPFA) pattern on EEG who developed refractory seizures, notably drop attacks, but do not fulfill the classical triad for the diagnosis of Lennox–Gastaut syndrome (LGS) and provide further insight into LGS mechanisms. Among 957 patients admitted to video-EEG monitoring between 2002 and 2015, we retrospectively research adult patients with refractory Focal Epilepsy, drop attacks and GPFA on EEG. We collected demographic, anamnestic, and clinical data from medical records. We reviewed for all patients the interictal and ictal video-EEG recordings. We identified ten patients with Focal Epilepsy and electro-clinical features of LGS. As compared to classical LGS patients, our patients: (1) began Epilepsy later (15.4 ± 8 years); (2) exhibited exclusively Focal onset seizures, including drop attacks seizures linked to Focal asymmetrical tonic posturing seizures; (3) had a stable cognition over time and (4) evolved favourably with a good secondary response to treatments in 80% of cases. Interestingly, all patients exhibited apparent diffuse interictal and ictal EEG abnormalities but a detailed analysis revealed that 50% had asymmetrical GPFA and 70% secondary bilateral synchrony processes. We may hypothesize here that a process of “secondary LGS” occurred which produced a worsening of seizures with the apparition of drop attacks and GPFA on EEG. This study brings arguments to consider that some cases of LGS could be linked to the development of a “secondary epileptic network” driven by a primary Focal epileptic zone.
Sophie Dupont - One of the best experts on this subject based on the ideXlab platform.
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Understanding Lennox–Gastaut syndrome: insights from Focal Epilepsy patients with Lennox–Gastaut features
Journal of Neurology, 2017Co-Authors: Sophie Dupont, Virginie Lambrecq, Vincent Navarro, Claude Adam, Raluca Banica-wolters, Isabelle An-gourfinkel, Vi-huong Nguyen-michelAbstract:To delineate the clinical and EEG features of adults with Focal Epilepsy associated with a generalized paroxysmal fast activity (GPFA) pattern on EEG who developed refractory seizures, notably drop attacks, but do not fulfill the classical triad for the diagnosis of Lennox–Gastaut syndrome (LGS) and provide further insight into LGS mechanisms. Among 957 patients admitted to video-EEG monitoring between 2002 and 2015, we retrospectively research adult patients with refractory Focal Epilepsy, drop attacks and GPFA on EEG. We collected demographic, anamnestic, and clinical data from medical records. We reviewed for all patients the interictal and ictal video-EEG recordings. We identified ten patients with Focal Epilepsy and electro-clinical features of LGS. As compared to classical LGS patients, our patients: (1) began Epilepsy later (15.4 ± 8 years); (2) exhibited exclusively Focal onset seizures, including drop attacks seizures linked to Focal asymmetrical tonic posturing seizures; (3) had a stable cognition over time and (4) evolved favourably with a good secondary response to treatments in 80% of cases. Interestingly, all patients exhibited apparent diffuse interictal and ictal EEG abnormalities but a detailed analysis revealed that 50% had asymmetrical GPFA and 70% secondary bilateral synchrony processes. We may hypothesize here that a process of “secondary LGS” occurred which produced a worsening of seizures with the apparition of drop attacks and GPFA on EEG. This study brings arguments to consider that some cases of LGS could be linked to the development of a “secondary epileptic network” driven by a primary Focal epileptic zone.
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understanding lennox gastaut syndrome insights from Focal Epilepsy patients with lennox gastaut features
Journal of Neurology, 2017Co-Authors: Sophie Dupont, Raluca Banicawolters, Isabelle Angourfinkel, Virginie Lambrecq, Vincent Navarro, Claude Adam, Vihuong NguyenmichelAbstract:To delineate the clinical and EEG features of adults with Focal Epilepsy associated with a generalized paroxysmal fast activity (GPFA) pattern on EEG who developed refractory seizures, notably drop attacks, but do not fulfill the classical triad for the diagnosis of Lennox–Gastaut syndrome (LGS) and provide further insight into LGS mechanisms. Among 957 patients admitted to video-EEG monitoring between 2002 and 2015, we retrospectively research adult patients with refractory Focal Epilepsy, drop attacks and GPFA on EEG. We collected demographic, anamnestic, and clinical data from medical records. We reviewed for all patients the interictal and ictal video-EEG recordings. We identified ten patients with Focal Epilepsy and electro-clinical features of LGS. As compared to classical LGS patients, our patients: (1) began Epilepsy later (15.4 ± 8 years); (2) exhibited exclusively Focal onset seizures, including drop attacks seizures linked to Focal asymmetrical tonic posturing seizures; (3) had a stable cognition over time and (4) evolved favourably with a good secondary response to treatments in 80% of cases. Interestingly, all patients exhibited apparent diffuse interictal and ictal EEG abnormalities but a detailed analysis revealed that 50% had asymmetrical GPFA and 70% secondary bilateral synchrony processes. We may hypothesize here that a process of “secondary LGS” occurred which produced a worsening of seizures with the apparition of drop attacks and GPFA on EEG. This study brings arguments to consider that some cases of LGS could be linked to the development of a “secondary epileptic network” driven by a primary Focal epileptic zone.
Johannes R Lemke - One of the best experts on this subject based on the ideXlab platform.
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mutations in grin2a cause idiopathic Focal Epilepsy with rolandic spikes
Nature Genetics, 2013Co-Authors: Johannes R Lemke, Eva M Reinthaler, Isabelle Steiner, Michael Nothnagel, Michael Alber, Kirsten Geider, Bodo Laube, Michael Schwake, Katrin Finsterwalder, Andre FrankeAbstract:Sarah von Spiczak, Holger Lerche and colleagues identify mutations in GRIN2A that cause idiopathic Focal Epilepsy with rolandic spikes.
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Mutations in GRIN2A cause idiopathic Focal Epilepsy with rolandic spikes
Nature Genetics, 2013Co-Authors: Johannes R Lemke, Eva M Reinthaler, Isabelle Steiner, Michael Nothnagel, Michael Alber, Kirsten Geider, Bodo Laube, Michael Schwake, Katrin Finsterwalder, Andre FrankeAbstract:Sarah von Spiczak, Holger Lerche and colleagues identify mutations in GRIN2A that cause idiopathic Focal Epilepsy with rolandic spikes. Idiopathic Focal Epilepsy (IFE) with rolandic spikes is the most common childhood Epilepsy, comprising a phenotypic spectrum from rolandic Epilepsy (also benign Epilepsy with centrotemporal spikes, BECTS) to atypical benign partial Epilepsy (ABPE), Landau-Kleffner syndrome (LKS) and epileptic encephalopathy with continuous spike and waves during slow-wave sleep (CSWS)^ 1 , 2 . The genetic basis is largely unknown. We detected new heterozygous mutations in GRIN2A in 27 of 359 affected individuals from 2 independent cohorts with IFE (7.5%; P = 4.83 × 10^−18, Fisher's exact test). Mutations occurred significantly more frequently in the more severe phenotypes, with mutation detection rates ranging from 12/245 (4.9%) in individuals with BECTS to 9/51 (17.6%) in individuals with CSWS ( P = 0.009, Cochran-Armitage test for trend). In addition, exon-disrupting microdeletions were found in 3 of 286 individuals (1.0%; P = 0.004, Fisher's exact test). These results establish alterations of the gene encoding the NMDA receptor NR2A subunit as a major genetic risk factor for IFE.