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

97 Citations (Scopus)

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 languageEnglish
Pages (from-to)1316-1336
Number of pages21
JournalBrain
Volume140
Issue number5
DOIs
Publication statusPublished - May 1 2017

Fingerprint

Genetic Heterogeneity
NAV1.2 Voltage-Gated Sodium Channel
Epilepsy
Brain Diseases
Phenotype
Mutation
Therapeutics
Genes
Neurodevelopmental Disorders

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

Cite this

Wolff, M., Johannesen, K. M., Hedrich, U. B. S., Masnada, S., Rubboli, G., Gardella, E., ... 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

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. / Wolff, Markus; Johannesen, Katrine M; Hedrich, Ulrike B S; Masnada, Silvia; Rubboli, Guido; Gardella, Elena; Lesca, Gaetan; Ville, Dorothée; Milh, Mathieu; Villard, Laurent; Afenjar, Alexandra; Chantot-Bastaraud, Sandra; Mignot, Cyril; Lardennois, Caroline; Nava, Caroline; Schwarz, Niklas; Gérard, Marion; Perrin, Laurence; Doummar, Diane; Auvin, Stéphane; Miranda, Maria J; Hempel, Maja; Brilstra, Eva; Knoers, Nine; Verbeek, Nienke; van Kempen, Marjan; Braun, Kees P; Mancini, Grazia; Biskup, Saskia; Hörtnagel, Konstanze; Döcker, Miriam; Bast, Thomas; Loddenkemper, Tobias; Wong-Kisiel, Lily; Baumeister, Friedrich M; Fazeli, Walid; Striano, Pasquale; Dilena, Robertino; Fontana, Elena; Zara, Federico; Kurlemann, Gerhard; Klepper, Joerg; Thoene, Jess G; Arndt, Daniel H; Deconinck, Nicolas; Schmitt-Mechelke, Thomas; Maier, Oliver; Muhle, Hiltrud; Trivisano, Marina; Specchio, Nicola.

In: Brain, Vol. 140, No. 5, 01.05.2017, p. 1316-1336.

Research output: Contribution to journal › Article

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
Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E et al. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. Brain. 2017 May 1;140(5):1316-1336. https://doi.org/10.1093/brain/awx054
Wolff, Markus ; Johannesen, Katrine M ; Hedrich, Ulrike B S ; Masnada, Silvia ; Rubboli, Guido ; Gardella, Elena ; Lesca, Gaetan ; Ville, Dorothée ; Milh, Mathieu ; Villard, Laurent ; Afenjar, Alexandra ; Chantot-Bastaraud, Sandra ; Mignot, Cyril ; Lardennois, Caroline ; Nava, Caroline ; Schwarz, Niklas ; Gérard, Marion ; Perrin, Laurence ; Doummar, Diane ; Auvin, Stéphane ; Miranda, Maria J ; Hempel, Maja ; Brilstra, Eva ; Knoers, Nine ; Verbeek, Nienke ; van Kempen, Marjan ; Braun, Kees P ; Mancini, Grazia ; Biskup, Saskia ; Hörtnagel, Konstanze ; Döcker, Miriam ; Bast, Thomas ; Loddenkemper, Tobias ; Wong-Kisiel, Lily ; Baumeister, Friedrich M ; Fazeli, Walid ; Striano, Pasquale ; Dilena, Robertino ; Fontana, Elena ; Zara, Federico ; Kurlemann, Gerhard ; Klepper, Joerg ; Thoene, Jess G ; Arndt, Daniel H ; Deconinck, Nicolas ; Schmitt-Mechelke, Thomas ; Maier, Oliver ; Muhle, Hiltrud ; Trivisano, Marina ; Specchio, Nicola. / Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. In: Brain. 2017 ; Vol. 140, No. 5. pp. 1316-1336.
@article{1d113f54606a43b89f478adc77d98b13,
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 (",
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",
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",
note = "{\circledC} The Author (2017). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.",
year = "2017",
month = "5",
day = "1",
doi = "10.1093/brain/awx054",
language = "English",
volume = "140",
pages = "1316--1336",
journal = "Brain",
issn = "0006-8950",
publisher = "Oxford University Press",
number = "5",

}

TY - JOUR

T1 - Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

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

N1 - © The Author (2017). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

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 -

Access to Document

Related content

Projects

OSPEDALE BAMBINO GESU' - MALATTIE GENETICHE E MALATTIE RARE IN PEDIATRIA

Project: Other project