Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71 patients and review 130 previously reported patients. We found that (i) encephalopathies with infanti...
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| Published in | Brain (London, England : 1878) Vol. 140; no. 5; pp. 1316 - 1336 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
England
Oxford University Press
01.05.2017
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| Subjects | |
| Online Access | Get full text |
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| Abstract | Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71 patients and review 130 previously reported patients. We found that (i) encephalopathies with infantile/childhood onset epilepsies (≥3 months of age) occur almost as often as those with an early infantile onset (<3 months), and are thus more frequent than previously reported; (ii) distinct phenotypes can be seen within the late onset group, including myoclonic-atonic epilepsy (two patients), Lennox-Gastaut not emerging from West syndrome (two patients), and focal epilepsies with an electrical status epilepticus during slow sleep-like EEG pattern (six patients); and (iii) West syndrome constitutes a common phenotype with a major recurring mutation (p.Arg853Gln: two new and four previously reported children). Other known phenotypes include Ohtahara syndrome, epilepsy of infancy with migrating focal seizures, and intellectual disability or autism without epilepsy. To assess the response to antiepileptic therapy, we retrospectively reviewed the treatment regimen and the course of the epilepsy in 66 patients for which well-documented medical information was available. We find that the use of sodium channel blockers was often associated with clinically relevant seizure reduction or seizure freedom in children with early infantile epilepsies (<3 months), whereas other antiepileptic drugs were less effective. In contrast, sodium channel blockers were rarely effective in epilepsies with later onset (≥3 months) and sometimes induced seizure worsening. Regarding the genetic findings, truncating mutations were exclusively seen in patients with late onset epilepsies and lack of response to sodium channel blockers. Functional characterization of four selected missense mutations using whole cell patch-clamping in tsA201 cells-together with data from the literature-suggest that mutations associated with early infantile epilepsy result in increased sodium channel activity with gain-of-function, characterized by slowing of fast inactivation, acceleration of its recovery or increased persistent sodium current. Further, a good response to sodium channel blockers clinically was found to be associated with a relatively small gain-of-function. In contrast, mutations in patients with late-onset forms and an insufficient response to sodium channel blockers were associated with loss-of-function effects, including a depolarizing shift of voltage-dependent activation or a hyperpolarizing shift of channel availability (steady-state inactivation). Our clinical and experimental data suggest a correlation between age at disease onset, response to sodium channel blockers and the functional properties of mutations in children with SCN2A-related epilepsy. |
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| AbstractList | Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71 patients and review 130 previously reported patients. We found that (i) encephalopathies with infantile/childhood onset epilepsies (≥3 months of age) occur almost as often as those with an early infantile onset (<3 months), and are thus more frequent than previously reported; (ii) distinct phenotypes can be seen within the late onset group, including myoclonic-atonic epilepsy (two patients), Lennox-Gastaut not emerging from West syndrome (two patients), and focal epilepsies with an electrical status epilepticus during slow sleep-like EEG pattern (six patients); and (iii) West syndrome constitutes a common phenotype with a major recurring mutation (p.Arg853Gln: two new and four previously reported children). Other known phenotypes include Ohtahara syndrome, epilepsy of infancy with migrating focal seizures, and intellectual disability or autism without epilepsy. To assess the response to antiepileptic therapy, we retrospectively reviewed the treatment regimen and the course of the epilepsy in 66 patients for which well-documented medical information was available. We find that the use of sodium channel blockers was often associated with clinically relevant seizure reduction or seizure freedom in children with early infantile epilepsies (<3 months), whereas other antiepileptic drugs were less effective. In contrast, sodium channel blockers were rarely effective in epilepsies with later onset (≥3 months) and sometimes induced seizure worsening. Regarding the genetic findings, truncating mutations were exclusively seen in patients with late onset epilepsies and lack of response to sodium channel blockers. Functional characterization of four selected missense mutations using whole cell patch-clamping in tsA201 cells—together with data from the literature—suggest that mutations associated with early infantile epilepsy result in increased sodium channel activity with gain-of-function, characterized by slowing of fast inactivation, acceleration of its recovery or increased persistent sodium current. Further, a good response to sodium channel blockers clinically was found to be associated with a relatively small gain-of-function. In contrast, mutations in patients with late-onset forms and an insufficient response to sodium channel blockers were associated with loss-of-function effects, including a depolarizing shift of voltage-dependent activation or a hyperpolarizing shift of channel availability (steady-state inactivation). Our clinical and experimental data suggest a correlation between age at disease onset, response to sodium channel blockers and the functional properties of mutations in children with SCN2A-related epilepsy. Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71 patients and review 130 previously reported patients. We found that (i) encephalopathies with infantile/childhood onset epilepsies (≥3 months of age) occur almost as often as those with an early infantile onset (<3 months), and are thus more frequent than previously reported; (ii) distinct phenotypes can be seen within the late onset group, including myoclonic-atonic epilepsy (two patients), Lennox-Gastaut not emerging from West syndrome (two patients), and focal epilepsies with an electrical status epilepticus during slow sleep-like EEG pattern (six patients); and (iii) West syndrome constitutes a common phenotype with a major recurring mutation (p.Arg853Gln: two new and four previously reported children). Other known phenotypes include Ohtahara syndrome, epilepsy of infancy with migrating focal seizures, and intellectual disability or autism without epilepsy. To assess the response to antiepileptic therapy, we retrospectively reviewed the treatment regimen and the course of the epilepsy in 66 patients for which well-documented medical information was available. We find that the use of sodium channel blockers was often associated with clinically relevant seizure reduction or seizure freedom in children with early infantile epilepsies (<3 months), whereas other antiepileptic drugs were less effective. In contrast, sodium channel blockers were rarely effective in epilepsies with later onset (≥3 months) and sometimes induced seizure worsening. Regarding the genetic findings, truncating mutations were exclusively seen in patients with late onset epilepsies and lack of response to sodium channel blockers. Functional characterization of four selected missense mutations using whole cell patch-clamping in tsA201 cells-together with data from the literature-suggest that mutations associated with early infantile epilepsy result in increased sodium channel activity with gain-of-function, characterized by slowing of fast inactivation, acceleration of its recovery or increased persistent sodium current. Further, a good response to sodium channel blockers clinically was found to be associated with a relatively small gain-of-function. In contrast, mutations in patients with late-onset forms and an insufficient response to sodium channel blockers were associated with loss-of-function effects, including a depolarizing shift of voltage-dependent activation or a hyperpolarizing shift of channel availability (steady-state inactivation). Our clinical and experimental data suggest a correlation between age at disease onset, response to sodium channel blockers and the functional properties of mutations in children with SCN2A-related epilepsy.Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71 patients and review 130 previously reported patients. We found that (i) encephalopathies with infantile/childhood onset epilepsies (≥3 months of age) occur almost as often as those with an early infantile onset (<3 months), and are thus more frequent than previously reported; (ii) distinct phenotypes can be seen within the late onset group, including myoclonic-atonic epilepsy (two patients), Lennox-Gastaut not emerging from West syndrome (two patients), and focal epilepsies with an electrical status epilepticus during slow sleep-like EEG pattern (six patients); and (iii) West syndrome constitutes a common phenotype with a major recurring mutation (p.Arg853Gln: two new and four previously reported children). Other known phenotypes include Ohtahara syndrome, epilepsy of infancy with migrating focal seizures, and intellectual disability or autism without epilepsy. To assess the response to antiepileptic therapy, we retrospectively reviewed the treatment regimen and the course of the epilepsy in 66 patients for which well-documented medical information was available. We find that the use of sodium channel blockers was often associated with clinically relevant seizure reduction or seizure freedom in children with early infantile epilepsies (<3 months), whereas other antiepileptic drugs were less effective. In contrast, sodium channel blockers were rarely effective in epilepsies with later onset (≥3 months) and sometimes induced seizure worsening. Regarding the genetic findings, truncating mutations were exclusively seen in patients with late onset epilepsies and lack of response to sodium channel blockers. Functional characterization of four selected missense mutations using whole cell patch-clamping in tsA201 cells-together with data from the literature-suggest that mutations associated with early infantile epilepsy result in increased sodium channel activity with gain-of-function, characterized by slowing of fast inactivation, acceleration of its recovery or increased persistent sodium current. Further, a good response to sodium channel blockers clinically was found to be associated with a relatively small gain-of-function. In contrast, mutations in patients with late-onset forms and an insufficient response to sodium channel blockers were associated with loss-of-function effects, including a depolarizing shift of voltage-dependent activation or a hyperpolarizing shift of channel availability (steady-state inactivation). Our clinical and experimental data suggest a correlation between age at disease onset, response to sodium channel blockers and the functional properties of mutations in children with SCN2A-related epilepsy. |
| Author | Hörtnagel, Konstanze Gardella, Elena Thoene, Jess G. Stamberger, Hannah Deprez, Marie Ceulemans, Berten Helbig, Ingo Hjalgrim, Helle Dorn, Thomas Wolff, Markus Scalais, Emmanuel Ville, Dorothée Schwarz, Niklas Weckhuysen, Sarah Hedrich, Ulrike B. S. Nava, Caroline Pietz, Joachim Lerche, Holger Lederer, Damien Trivisano, Marina Doummar, Diane Jillella, Dinesh Hempel, Maja Selim, Laila Mignot, Cyril Afenjar, Alexandra Helbig, Katherine L. Mantovani, John F. Finetti, Claudio Masnada, Silvia Bast, Thomas Schmitt-Mechelke, Thomas Rubboli, Guido Kurlemann, Gerhard Johannesen, Katrine M. Knoers, Nine de Jonghe, Peter Braun, Kees P. Fontana, Elena Nikanorova, Marina Muhle, Hiltrud Specchio, Nicola Fazeli, Walid Gérard, Marion Baumeister, Friedrich M. Krägeloh-Mann, Ingeborg Brilstra, Eva Loddenkemper, Tobias Deconinck, Nicolas Dilena, Robertino Maier, Oliver Golla, Günther Hardies, Katia Klepper, Joerg Brückner, Reinhard van Kempen, Marjan Wong-Kisiel, Lily Lesca, Gaetan Verbeek, Nienke Linnet, Karen M. Arndt, Daniel H. Van Coster, Rudy Biskup, Saskia Cha |
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S. organization: 4 Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany – sequence: 4 givenname: Silvia surname: Masnada fullname: Masnada, Silvia organization: 5 Department of Brain and Behavior, University of Pavia, Italy – sequence: 5 givenname: Guido surname: Rubboli fullname: Rubboli, Guido organization: 2 The Danish Epilepsy Centre, Dianalund, Denmark, 6 University of Copenhagen, Copenhagen, Denmark – sequence: 6 givenname: Elena surname: Gardella fullname: Gardella, Elena organization: 2 The Danish Epilepsy Centre, Dianalund, Denmark, 3 Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark – sequence: 7 givenname: Gaetan surname: Lesca fullname: Lesca, Gaetan organization: 7 Department of Genetics, Lyon University Hospital, Lyon, France, 8 Claude Bernard Lyon I University, Lyon, France, 9 Lyon Neuroscience Research Centre, CNRS UMRS5292, INSERM U1028, Lyon, France – sequence: 8 givenname: Dorothée surname: Ville fullname: Ville, Dorothée organization: 10 Department of Pediatric Neurology and Reference Center for Rare Children Epilepsy and Tuberous Sclerosis, Hôpital Femme Mere Enfant, Centre Hospitalier Universitaire de Lyon, HCL, France – sequence: 9 givenname: Mathieu surname: Milh fullname: Milh, Mathieu organization: 11 APHM Service de neurologie pédiatrique, Marseille, France, 12 Aix Marseille Univ, Inserm, GMGF, UMR-S 910, Marseille, France – sequence: 10 givenname: Laurent surname: Villard fullname: Villard, Laurent organization: 12 Aix Marseille Univ, Inserm, GMGF, UMR-S 910, Marseille, France – sequence: 11 givenname: Alexandra surname: Afenjar fullname: Afenjar, Alexandra organization: 13 AP-HP, Unité de Gènètique Clinique, Hôpital Armand Trousseau, Groupe Hospitalier Universitaire de l’Est Parisien, Paris, France – sequence: 12 givenname: Sandra surname: Chantot-Bastaraud fullname: Chantot-Bastaraud, Sandra organization: 13 AP-HP, Unité de Gènètique Clinique, Hôpital Armand Trousseau, Groupe Hospitalier Universitaire de l’Est Parisien, Paris, France – sequence: 13 givenname: Cyril surname: Mignot fullname: Mignot, Cyril organization: 14 AP-HP, Département de Génétique; 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organization: 48 Wangen, Germany – sequence: 52 givenname: Joachim surname: Pietz fullname: Pietz, Joachim organization: 49 Pediatric Practice University Medical Center for Children and Adolescents, Angelika Lautenschläger Children’s Hospital, Heidelberg, Germany – sequence: 53 givenname: Günther surname: Golla fullname: Golla, Günther organization: 50 Klinik für Kinder- und Jugendmedizin, Klinikum Lippe GmbH, Detmold, Germany – sequence: 54 givenname: Dinesh surname: Jillella fullname: Jillella, Dinesh organization: 51 Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children’s Hospital, Boston, MA, USA – sequence: 55 givenname: Karen M. surname: Linnet fullname: Linnet, Karen M. organization: 52 Department of Pediatrics, Aarhus University hospital, Aarhus, Denmark – sequence: 56 givenname: Perrine surname: Charles fullname: Charles, Perrine organization: 53 Department of Genetics and Cytogenetics, Assistance Publique-Hôpitaux de Paris, Groupe 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fullname: Lagae, Lieven organization: 62 Department of Development and Regeneration, Section Pediatric Neurology, University Hospital KU Leuven, Leuven, Belgium – sequence: 68 givenname: Marina surname: Nikanorova fullname: Nikanorova, Marina organization: 2 The Danish Epilepsy Centre, Dianalund, Denmark – sequence: 69 givenname: Helle surname: Hjalgrim fullname: Hjalgrim, Helle organization: 2 The Danish Epilepsy Centre, Dianalund, Denmark, 3 Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark – sequence: 70 givenname: G. 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| Keywords | epilepsy epilepsy genetics SCN2A treatment response sodium channel blockers |
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| SubjectTerms | Adolescent Adult Age of Onset Child Child, Preschool Denmark - epidemiology Epilepsy - drug therapy Epilepsy - epidemiology Epilepsy - genetics Epilepsy - physiopathology Female Genetics Human genetics Humans Infant Life Sciences Male Mutation NAV1.2 Voltage-Gated Sodium Channel - genetics NAV1.2 Voltage-Gated Sodium Channel - physiology Neurobiology Neurodevelopmental Disorders - genetics Neurons and Cognition Phenotype Sodium Channel Blockers - therapeutic use Young Adult |
| Title | Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders |
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