KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism

F Miceli; C Millevert; MV Soldovieri; I Mosca; P Ambrosino; L Carotenuto; D Schrader; HK Lee; J Riviello; W Hong; S Risen; L Emrick; H Amin; D Ville; P Edery; J de Bellescize; V Michaud; J Van-Gils; C Goizet; MH Willemsen; T Kleefstra; RS Moller; A Bayat; O Devinsky; T Sands; GC Korenke; Gerhard Kluger; HC Mefford; E Brilstra; G Lesca; M Milh; EC Cooper; M Taglialatela; S Weckhuysen

doi:10.1016/j.ebiom.2022.104130

KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism

F Miceli
, C Millevert
, MV Soldovieri
, I Mosca
, P Ambrosino
, L Carotenuto
, D Schrader
, HK Lee
, J Riviello
, W Hong
, S Risen
, L Emrick
, H Amin
, D Ville
, P Edery
, J de Bellescize
, V Michaud
, J Van-Gils
, C Goizet
, MH Willemsen

T Kleefstra, RS Moller, A Bayat, O Devinsky, T Sands, GC Korenke, Gerhard Kluger (Co-author), HC Mefford, E Brilstra, G Lesca, M Milh, EC Cooper, M Taglialatela, S Weckhuysen

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

36 Citations (Web of Science)

Original language	English
Pages (from-to)	104130
Journal	EBIOMEDICINE
Volume	81
DOIs	https://doi.org/10.1016/j.ebiom.2022.104130
Publication status	Published - 2022

Keywords

ONSET EPILEPTIC ENCEPHALOPATHY
GENOTYPE-PHENOTYPE CORRELATIONS
VOLTAGE SENSOR
MUTATIONS
CHANNELS
EPILEPSIES
GENETICS
PATIENT
K(V)7.2
BRAIN

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10.1016/j.ebiom.2022.104130

Cite this

Miceli, F., Millevert, C., Soldovieri, MV., Mosca, I., Ambrosino, P., Carotenuto, L., Schrader, D., Lee, HK., Riviello, J., Hong, W., Risen, S., Emrick, L., Amin, H., Ville, D., Edery, P., de Bellescize, J., Michaud, V., Van-Gils, J., Goizet, C., ... Weckhuysen, S. (2022). KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism. EBIOMEDICINE, 81, 104130. https://doi.org/10.1016/j.ebiom.2022.104130

@article{4010a89d64aa4fb48e62dcaf62aade34,

title = "KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism",

keywords = "ONSET EPILEPTIC ENCEPHALOPATHY, GENOTYPE-PHENOTYPE CORRELATIONS, VOLTAGE SENSOR, MUTATIONS, CHANNELS, EPILEPSIES, GENETICS, PATIENT, K(V)7.2, BRAIN",

author = "F Miceli and C Millevert and MV Soldovieri and I Mosca and P Ambrosino and L Carotenuto and D Schrader and HK Lee and J Riviello and W Hong and S Risen and L Emrick and H Amin and D Ville and P Edery and \{de Bellescize\}, J and V Michaud and J Van-Gils and C Goizet and MH Willemsen and T Kleefstra and RS Moller and A Bayat and O Devinsky and T Sands and GC Korenke and Gerhard Kluger and HC Mefford and E Brilstra and G Lesca and M Milh and EC Cooper and M Taglialatela and S Weckhuysen",

note = "Kluger: Research Institute for Rehabilitation, Transition and Palliation, Paracelsus Medical University Salzburg, Salzburg, Austria, Neuropediatric Clinic and Clinic for Neurorehabilitation, Epilepsy Center for Children and Adolescents, Schon Klinik Vogtareuth, Vogtareuth, Germany",

year = "2022",

doi = "10.1016/j.ebiom.2022.104130",

language = "English",

volume = "81",

pages = "104130",

journal = "EBIOMEDICINE",

issn = "2352-3964",

}

Miceli, F, Millevert, C, Soldovieri, MV, Mosca, I, Ambrosino, P, Carotenuto, L, Schrader, D, Lee, HK, Riviello, J, Hong, W, Risen, S, Emrick, L, Amin, H, Ville, D, Edery, P, de Bellescize, J, Michaud, V, Van-Gils, J, Goizet, C, Willemsen, MH, Kleefstra, T, Moller, RS, Bayat, A, Devinsky, O, Sands, T, Korenke, GC, Kluger, G, Mefford, HC, Brilstra, E, Lesca, G, Milh, M, Cooper, EC, Taglialatela, M & Weckhuysen, S 2022, 'KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism', EBIOMEDICINE, vol. 81, pp. 104130. https://doi.org/10.1016/j.ebiom.2022.104130

TY - JOUR

T1 - KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism

AU - Miceli, F

AU - Millevert, C

AU - Soldovieri, MV

AU - Mosca, I

AU - Ambrosino, P

AU - Carotenuto, L

AU - Schrader, D

AU - Lee, HK

AU - Riviello, J

AU - Hong, W

AU - Risen, S

AU - Emrick, L

AU - Amin, H

AU - Ville, D

AU - Edery, P

AU - de Bellescize, J

AU - Michaud, V

AU - Van-Gils, J

AU - Goizet, C

AU - Willemsen, MH

AU - Kleefstra, T

AU - Moller, RS

AU - Bayat, A

AU - Devinsky, O

AU - Sands, T

AU - Korenke, GC

AU - Kluger, Gerhard

AU - Mefford, HC

AU - Brilstra, E

AU - Lesca, G

AU - Milh, M

AU - Cooper, EC

AU - Taglialatela, M

AU - Weckhuysen, S

N1 - Kluger: Research Institute for Rehabilitation, Transition and Palliation, Paracelsus Medical University Salzburg, Salzburg, Austria, Neuropediatric Clinic and Clinic for Neurorehabilitation, Epilepsy Center for Children and Adolescents, Schon Klinik Vogtareuth, Vogtareuth, Germany

PY - 2022

Y1 - 2022

KW - ONSET EPILEPTIC ENCEPHALOPATHY

KW - GENOTYPE-PHENOTYPE CORRELATIONS

KW - VOLTAGE SENSOR

KW - MUTATIONS

KW - CHANNELS

KW - EPILEPSIES

KW - GENETICS

KW - PATIENT

KW - K(V)7.2

KW - BRAIN

U2 - 10.1016/j.ebiom.2022.104130

DO - 10.1016/j.ebiom.2022.104130

M3 - Original Article

C2 - 35780567

SN - 2352-3964

VL - 81

SP - 104130

JO - EBIOMEDICINE

JF - EBIOMEDICINE

ER -