Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H

Sarah B. Mulkey; Bruria Ben-Zeev; Joost Nicolai; John L. Carroll; Sabine Gronborg; Yong-hui Jiang; Nishtha Joshi; Megan Kelly; David. A. Koolen; Mohamad A. Mikati; Kristen Park; Phillip L. Pearl; Ingrid E. Scheffer; Rebecca C. Spillmann; Maurizio Taglialatela; Silvia Vieker; Sarah Weckhuysen; Edward C. Cooper; Maria Roberta Cilio

doi:10.1111/epi.13676

Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H

Sarah B. Mulkey^*, Bruria Ben-Zeev, Joost Nicolai, John L. Carroll, Sabine Gronborg, Yong-hui Jiang, Nishtha Joshi, Megan Kelly, David. A. Koolen, Mohamad A. Mikati, Kristen Park, Phillip L. Pearl, Ingrid E. Scheffer, Rebecca C. Spillmann, Maurizio Taglialatela, Silvia Vieker, Sarah Weckhuysen, Edward C. Cooper, Maria Roberta Cilio

^*Corresponding author for this work

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

Original language	English
Pages (from-to)	436-445
Number of pages	10
Journal	Epilepsia
Volume	58
Issue number	3
DOIs	https://doi.org/10.1111/epi.13676
Publication status	Published - Mar 2017

Keywords

KCNQ2
Neonatal seizures
Myoclonus
Epileptic encephalopathy
Infantile spasms
ONSET EPILEPTIC ENCEPHALOPATHY
POTASSIUM CHANNEL SUBUNITS
VOLTAGE SENSOR
MUTATIONS
CONVULSIONS
PHENOTYPE
SPECTRUM
HYPEREXCITABILITY
SUPPRESSION
SEIZURES

Access to Document

10.1111/epi.13676

Cite this

Mulkey, S. B., Ben-Zeev, B., Nicolai, J., Carroll, J. L., Gronborg, S., Jiang, Y., Joshi, N., Kelly, M., Koolen, D. A., Mikati, M. A., Park, K., Pearl, P. L., Scheffer, I. E., Spillmann, R. C., Taglialatela, M., Vieker, S., Weckhuysen, S., Cooper, E. C., & Cilio, M. R. (2017). Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H. Epilepsia, 58(3), 436-445. https://doi.org/10.1111/epi.13676

Mulkey, Sarah B. ; Ben-Zeev, Bruria ; Nicolai, Joost ; Carroll, John L. ; Gronborg, Sabine ; Jiang, Yong-hui ; Joshi, Nishtha ; Kelly, Megan ; Koolen, David. A. ; Mikati, Mohamad A. ; Park, Kristen ; Pearl, Phillip L. ; Scheffer, Ingrid E. ; Spillmann, Rebecca C. ; Taglialatela, Maurizio ; Vieker, Silvia ; Weckhuysen, Sarah ; Cooper, Edward C. ; Cilio, Maria Roberta. / Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H. In: Epilepsia. 2017 ; Vol. 58, No. 3. pp. 436-445.

@article{e30432ded33f49759ddf184a0560f083,

title = "Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H",

keywords = "KCNQ2, Neonatal seizures, Myoclonus, Epileptic encephalopathy, Infantile spasms, ONSET EPILEPTIC ENCEPHALOPATHY, POTASSIUM CHANNEL SUBUNITS, VOLTAGE SENSOR, MUTATIONS, CONVULSIONS, PHENOTYPE, SPECTRUM, HYPEREXCITABILITY, SUPPRESSION, SEIZURES",

author = "Mulkey, {Sarah B.} and Bruria Ben-Zeev and Joost Nicolai and Carroll, {John L.} and Sabine Gronborg and Yong-hui Jiang and Nishtha Joshi and Megan Kelly and Koolen, {David. A.} and Mikati, {Mohamad A.} and Kristen Park and Pearl, {Phillip L.} and Scheffer, {Ingrid E.} and Spillmann, {Rebecca C.} and Maurizio Taglialatela and Silvia Vieker and Sarah Weckhuysen and Cooper, {Edward C.} and Cilio, {Maria Roberta}",

year = "2017",

month = mar,

doi = "10.1111/epi.13676",

language = "English",

volume = "58",

pages = "436--445",

journal = "Epilepsia",

issn = "0013-9580",

publisher = "Wiley",

number = "3",

}

Mulkey, SB, Ben-Zeev, B, Nicolai, J, Carroll, JL, Gronborg, S, Jiang, Y, Joshi, N, Kelly, M, Koolen, DA, Mikati, MA, Park, K, Pearl, PL, Scheffer, IE, Spillmann, RC, Taglialatela, M, Vieker, S, Weckhuysen, S, Cooper, EC & Cilio, MR 2017, 'Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H', Epilepsia, vol. 58, no. 3, pp. 436-445. https://doi.org/10.1111/epi.13676

Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H. / Mulkey, Sarah B.; Ben-Zeev, Bruria; Nicolai, Joost; Carroll, John L.; Gronborg, Sabine; Jiang, Yong-hui; Joshi, Nishtha; Kelly, Megan; Koolen, David. A.; Mikati, Mohamad A.; Park, Kristen; Pearl, Phillip L.; Scheffer, Ingrid E.; Spillmann, Rebecca C.; Taglialatela, Maurizio; Vieker, Silvia; Weckhuysen, Sarah; Cooper, Edward C.; Cilio, Maria Roberta.

In: Epilepsia, Vol. 58, No. 3, 03.2017, p. 436-445.

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

TY - JOUR

T1 - Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H

AU - Mulkey, Sarah B.

AU - Ben-Zeev, Bruria

AU - Nicolai, Joost

AU - Carroll, John L.

AU - Gronborg, Sabine

AU - Jiang, Yong-hui

AU - Joshi, Nishtha

AU - Kelly, Megan

AU - Koolen, David. A.

AU - Mikati, Mohamad A.

AU - Park, Kristen

AU - Pearl, Phillip L.

AU - Scheffer, Ingrid E.

AU - Spillmann, Rebecca C.

AU - Taglialatela, Maurizio

AU - Vieker, Silvia

AU - Weckhuysen, Sarah

AU - Cooper, Edward C.

AU - Cilio, Maria Roberta

PY - 2017/3

Y1 - 2017/3

KW - KCNQ2

KW - Neonatal seizures

KW - Myoclonus

KW - Epileptic encephalopathy

KW - Infantile spasms

KW - ONSET EPILEPTIC ENCEPHALOPATHY

KW - POTASSIUM CHANNEL SUBUNITS

KW - VOLTAGE SENSOR

KW - MUTATIONS

KW - CONVULSIONS

KW - PHENOTYPE

KW - SPECTRUM

KW - HYPEREXCITABILITY

KW - SUPPRESSION

KW - SEIZURES

U2 - 10.1111/epi.13676

DO - 10.1111/epi.13676

M3 - Article

VL - 58

SP - 436

EP - 445

JO - Epilepsia

JF - Epilepsia

SN - 0013-9580

IS - 3

ER -