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 | |
| Publication status | Published - Feb 1 2019 |
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ASJC Scopus subject areas
- Neuroscience(all)
- Clinical Neurology
Cite this
Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations. / Rubboli, Guido; Plazzi, Giuseppe; Picard, Fabienne; Nobili, Lino; Hirsch, Edouard; Chelly, Jamel; Prayson, Richard A.; Boutonnat, Jean; Bramerio, Manuela; Kahane, Philippe; Dibbens, Leanne M.; Gardella, Elena; Baulac, Stéphanie; Møller, Rikke S.
In: Annals of Clinical and Translational Neurology, Vol. 6, No. 2, 01.02.2019, p. 386-391.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations
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.
N1 - Ricercatore distaccato presso IRCCS a seguito Convenzione esclusiva con Università di Bologna (Plazzi Giuseppe)
PY - 2019/2/1
Y1 - 2019/2/1
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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UR - http://www.scopus.com/inward/citedby.url?scp=85062086263&partnerID=8YFLogxK
U2 - 10.1002/acn3.708
DO - 10.1002/acn3.708
M3 - Article
VL - 6
SP - 386
EP - 391
JO - Annals of Clinical and Translational Neurology
JF - Annals of Clinical and Translational Neurology
SN - 2328-9503
IS - 2
ER -