Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Markus Wolff; Katrine M Johannesen; Ulrike B S Hedrich; Silvia Masnada; Guido Rubboli; Elena Gardella; Gaetan Lesca; Dorothée Ville; Mathieu Milh; Laurent Villard; Alexandra Afenjar; Sandra Chantot-Bastaraud; Cyril Mignot; Caroline Lardennois; Caroline Nava; Niklas Schwarz; Marion Gérard; Laurence Perrin; Diane Doummar; Stéphane Auvin; Maria J Miranda; Maja Hempel; Eva Brilstra; Nine Knoers; Nienke Verbeek; Marjan van Kempen; Kees P Braun; Grazia Mancini; Saskia Biskup; Konstanze Hörtnagel; Miriam Döcker; Thomas Bast; Tobias Loddenkemper; Lily Wong-Kisiel; Friedrich M Baumeister; Walid Fazeli; Pasquale Striano; Robertino Dilena; Elena Fontana; Federico Zara; Gerhard Kurlemann; Joerg Klepper; Jess G Thoene; Daniel H Arndt; Nicolas Deconinck; Thomas Schmitt-Mechelke; Oliver Maier; Hiltrud Muhle; Marina Trivisano; Nicola Specchio

doi:10.1093/brain/awx054

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Markus Wolff, Katrine M Johannesen, Ulrike B S Hedrich, Silvia Masnada, Guido Rubboli, Elena Gardella, Gaetan Lesca, Dorothée Ville, Mathieu Milh, Laurent Villard, Alexandra Afenjar, Sandra Chantot-Bastaraud, Cyril Mignot, Caroline Lardennois, Caroline Nava, Niklas Schwarz, Marion Gérard, Laurence Perrin, Diane Doummar, Stéphane AuvinMaria J Miranda, Maja Hempel, Eva Brilstra, Nine Knoers, Nienke Verbeek, Marjan van Kempen, Kees P Braun, Grazia Mancini, Saskia Biskup, Konstanze Hörtnagel, Miriam Döcker, Thomas Bast, Tobias Loddenkemper, Lily Wong-Kisiel, Friedrich M Baumeister, Walid Fazeli, Pasquale Striano, Robertino Dilena, Elena Fontana, Federico Zara, Gerhard Kurlemann, Joerg Klepper, Jess G Thoene, Daniel H Arndt, Nicolas Deconinck, Thomas Schmitt-Mechelke, Oliver Maier, Hiltrud Muhle, Marina Trivisano, Nicola Specchio

Research output: Contribution to journal › Article › peer-review

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 (

Original language	English
Pages (from-to)	1316-1336
Number of pages	21
Journal	Brain
Volume	140
Issue number	5
DOIs	https://doi.org/10.1093/brain/awx054
Publication status	Published - May 1 2017

Keywords

Adolescent
Adult
Age of Onset
Child
Child, Preschool
Denmark
Epilepsy
Female
Humans
Infant
Male
Mutation
NAV1.2 Voltage-Gated Sodium Channel
Neurodevelopmental Disorders
Phenotype
Sodium Channel Blockers
Young Adult
Journal Article

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10.1093/brain/awx054

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Wolff, M., Johannesen, K. M., Hedrich, U. B. S., Masnada, S., Rubboli, G., Gardella, E., Lesca, G., Ville, D., Milh, M., Villard, L., Afenjar, A., Chantot-Bastaraud, S., Mignot, C., Lardennois, C., Nava, C., Schwarz, N., Gérard, M., Perrin, L., Doummar, D., ... Specchio, N. (2017). Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. Brain, 140(5), 1316-1336. https://doi.org/10.1093/brain/awx054

Wolff, M, Johannesen, KM, Hedrich, UBS, Masnada, S, Rubboli, G, Gardella, E, Lesca, G, Ville, D, Milh, M, Villard, L, Afenjar, A, Chantot-Bastaraud, S, Mignot, C, Lardennois, C, Nava, C, Schwarz, N, Gérard, M, Perrin, L, Doummar, D, Auvin, S, Miranda, MJ, Hempel, M, Brilstra, E, Knoers, N, Verbeek, N, van Kempen, M, Braun, KP, Mancini, G, Biskup, S, Hörtnagel, K, Döcker, M, Bast, T, Loddenkemper, T, Wong-Kisiel, L, Baumeister, FM, Fazeli, W, Striano, P , Dilena, R, Fontana, E, Zara, F, Kurlemann, G, Klepper, J, Thoene, JG, Arndt, DH, Deconinck, N, Schmitt-Mechelke, T, Maier, O, Muhle, H, Trivisano, M & Specchio, N 2017, 'Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders', Brain, vol. 140, no. 5, pp. 1316-1336. https://doi.org/10.1093/brain/awx054

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title = "Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders",

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 (",

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author = "Markus Wolff and Johannesen, {Katrine M} and Hedrich, {Ulrike B S} and Silvia Masnada and Guido Rubboli and Elena Gardella and Gaetan Lesca and Doroth{\'e}e Ville and Mathieu Milh and Laurent Villard and Alexandra Afenjar and Sandra Chantot-Bastaraud and Cyril Mignot and Caroline Lardennois and Caroline Nava and Niklas Schwarz and Marion G{\'e}rard and Laurence Perrin and Diane Doummar and St{\'e}phane Auvin and Miranda, {Maria J} and Maja Hempel and Eva Brilstra and Nine Knoers and Nienke Verbeek and {van Kempen}, Marjan and Braun, {Kees P} and Grazia Mancini and Saskia Biskup and Konstanze H{\"o}rtnagel and Miriam D{\"o}cker and Thomas Bast and Tobias Loddenkemper and Lily Wong-Kisiel and Baumeister, {Friedrich M} and Walid Fazeli and Pasquale Striano and Robertino Dilena and Elena Fontana and Federico Zara and Gerhard Kurlemann and Joerg Klepper and Thoene, {Jess G} and Arndt, {Daniel H} and Nicolas Deconinck and Thomas Schmitt-Mechelke and Oliver Maier and Hiltrud Muhle and Marina Trivisano and Nicola Specchio",

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AU - Wolff, Markus

AU - Johannesen, Katrine M

AU - Hedrich, Ulrike B S

AU - Masnada, Silvia

AU - Rubboli, Guido

AU - Gardella, Elena

AU - Lesca, Gaetan

AU - Ville, Dorothée

AU - Milh, Mathieu

AU - Villard, Laurent

AU - Afenjar, Alexandra

AU - Chantot-Bastaraud, Sandra

AU - Mignot, Cyril

AU - Lardennois, Caroline

AU - Nava, Caroline

AU - Schwarz, Niklas

AU - Gérard, Marion

AU - Perrin, Laurence

AU - Doummar, Diane

AU - Auvin, Stéphane

AU - Miranda, Maria J

AU - Hempel, Maja

AU - Brilstra, Eva

AU - Knoers, Nine

AU - Verbeek, Nienke

AU - van Kempen, Marjan

AU - Braun, Kees P

AU - Mancini, Grazia

AU - Biskup, Saskia

AU - Hörtnagel, Konstanze

AU - Döcker, Miriam

AU - Bast, Thomas

AU - Loddenkemper, Tobias

AU - Wong-Kisiel, Lily

AU - Baumeister, Friedrich M

AU - Fazeli, Walid

AU - Striano, Pasquale

AU - Dilena, Robertino

AU - Fontana, Elena

AU - Zara, Federico

AU - Kurlemann, Gerhard

AU - Klepper, Joerg

AU - Thoene, Jess G

AU - Arndt, Daniel H

AU - Deconinck, Nicolas

AU - Schmitt-Mechelke, Thomas

AU - Maier, Oliver

AU - Muhle, Hiltrud

AU - Trivisano, Marina

AU - Specchio, Nicola

PY - 2017/5/1

Y1 - 2017/5/1

N2 - 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 (

AB - 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 (

KW - Adolescent

KW - Adult

KW - Age of Onset

KW - Child

KW - Child, Preschool

KW - Denmark

KW - Epilepsy

KW - Female

KW - Humans

KW - Infant

KW - Male

KW - Mutation

KW - NAV1.2 Voltage-Gated Sodium Channel

KW - Neurodevelopmental Disorders

KW - Phenotype

KW - Sodium Channel Blockers

KW - Young Adult

KW - Journal Article

U2 - 10.1093/brain/awx054

DO - 10.1093/brain/awx054

M3 - Article

VL - 140

SP - 1316

EP - 1336

JO - Brain

JF - Brain

SN - 0006-8950

IS - 5

ER -

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Abstract

Keywords

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