Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations

Guido Rubboli; Giuseppe Plazzi; Fabienne Picard; Lino Nobili; Edouard Hirsch; Jamel Chelly; Richard A. Prayson; Jean Boutonnat; Manuela Bramerio; Philippe Kahane; Leanne M. Dibbens; Elena Gardella; Stéphanie Baulac; Rikke S. Møller

doi:10.1002/acn3.708

Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations

Guido Rubboli, Giuseppe Plazzi, Fabienne Picard, Lino Nobili, Edouard Hirsch, Jamel Chelly, Richard A. Prayson, Jean Boutonnat, Manuela Bramerio, Philippe Kahane, Leanne M. Dibbens, Elena Gardella, Stéphanie Baulac, Rikke S. Møller

Istituto Scienze Neurologiche

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

Abstract

Mutations in the sodium-activated potassium channel gene KCNT1 have been associated with nonlesional sleep-related hypermotor epilepsy (SHE). We report the co-occurrence of mild malformation of cortical development (mMCD) and KCNT1 mutations in four patients with SHE. Focal cortical dysplasia type I was neuropathologically diagnosed after epilepsy surgery in three unrelated MRI-negative patients, periventricular nodular heterotopia was detected in one patient by MRI. Our findings suggest that KCNT1 epileptogenicity may result not only from dysregulated excitability by controlling Na+K+ transport, but also from mMCD. Therefore, pathogenic variants in KCNT1 may encompass both lesional and nonlesional epilepsies.

Original language	English
Pages (from-to)	386-391
Number of pages	6
Journal	Annals of Clinical and Translational Neurology
Volume	6
Issue number	2
DOIs	https://doi.org/10.1002/acn3.708
Publication status	Published - Feb 1 2019

ASJC Scopus subject areas

Neuroscience(all)
Clinical Neurology

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Rubboli, G., Plazzi, G., Picard, F., Nobili, L., Hirsch, E., Chelly, J., Prayson, R. A., Boutonnat, J., Bramerio, M., Kahane, P., Dibbens, L. M., Gardella, E., Baulac, S., & Møller, R. S. (2019). Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations. Annals of Clinical and Translational Neurology, 6(2), 386-391. https://doi.org/10.1002/acn3.708

Rubboli, G, Plazzi, G, Picard, F, Nobili, L, Hirsch, E, Chelly, J, Prayson, RA, Boutonnat, J, Bramerio, M, Kahane, P, Dibbens, LM, Gardella, E, Baulac, S & Møller, RS 2019, 'Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations', Annals of Clinical and Translational Neurology, vol. 6, no. 2, pp. 386-391. https://doi.org/10.1002/acn3.708

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title = "Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations",

abstract = "Mutations in the sodium-activated potassium channel gene KCNT1 have been associated with nonlesional sleep-related hypermotor epilepsy (SHE). We report the co-occurrence of mild malformation of cortical development (mMCD) and KCNT1 mutations in four patients with SHE. Focal cortical dysplasia type I was neuropathologically diagnosed after epilepsy surgery in three unrelated MRI-negative patients, periventricular nodular heterotopia was detected in one patient by MRI. Our findings suggest that KCNT1 epileptogenicity may result not only from dysregulated excitability by controlling Na+K+ transport, but also from mMCD. Therefore, pathogenic variants in KCNT1 may encompass both lesional and nonlesional epilepsies.",

author = "Guido Rubboli and Giuseppe Plazzi and Fabienne Picard and Lino Nobili and Edouard Hirsch and Jamel Chelly and Prayson, {Richard A.} and Jean Boutonnat and Manuela Bramerio and Philippe Kahane and Dibbens, {Leanne M.} and Elena Gardella and St{\'e}phanie Baulac and M{\o}ller, {Rikke S.}",

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doi = "10.1002/acn3.708",

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AU - Rubboli, Guido

AU - Plazzi, Giuseppe

AU - Picard, Fabienne

AU - Nobili, Lino

AU - Hirsch, Edouard

AU - Chelly, Jamel

AU - Prayson, Richard A.

AU - Boutonnat, Jean

AU - Bramerio, Manuela

AU - Kahane, Philippe

AU - Dibbens, Leanne M.

AU - Gardella, Elena

AU - Baulac, Stéphanie

AU - Møller, Rikke S.

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N2 - Mutations in the sodium-activated potassium channel gene KCNT1 have been associated with nonlesional sleep-related hypermotor epilepsy (SHE). We report the co-occurrence of mild malformation of cortical development (mMCD) and KCNT1 mutations in four patients with SHE. Focal cortical dysplasia type I was neuropathologically diagnosed after epilepsy surgery in three unrelated MRI-negative patients, periventricular nodular heterotopia was detected in one patient by MRI. Our findings suggest that KCNT1 epileptogenicity may result not only from dysregulated excitability by controlling Na+K+ transport, but also from mMCD. Therefore, pathogenic variants in KCNT1 may encompass both lesional and nonlesional epilepsies.

AB - Mutations in the sodium-activated potassium channel gene KCNT1 have been associated with nonlesional sleep-related hypermotor epilepsy (SHE). We report the co-occurrence of mild malformation of cortical development (mMCD) and KCNT1 mutations in four patients with SHE. Focal cortical dysplasia type I was neuropathologically diagnosed after epilepsy surgery in three unrelated MRI-negative patients, periventricular nodular heterotopia was detected in one patient by MRI. Our findings suggest that KCNT1 epileptogenicity may result not only from dysregulated excitability by controlling Na+K+ transport, but also from mMCD. Therefore, pathogenic variants in KCNT1 may encompass both lesional and nonlesional epilepsies.

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Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations

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