Nobili L - Search Results

1

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy.

Heron SE, Smith KR, Bahlo M, Nobili L, Kahana E, Licchetta L, Oliver KL, Mazarib A, Afawi Z, Korczyn A, Plazzi G, Petrou S, Berkovic SF, Scheffer IE, Dibbens LM. Heron SE, et al. Among authors: nobili l. Nat Genet. 2012 Nov;44(11):1188-90. doi: 10.1038/ng.2440. Epub 2012 Oct 21. Nat Genet. 2012. PMID: 23086396

2

Nocturnal frontal lobe epilepsy.

Nobili L, Proserpio P, Combi R, Provini F, Plazzi G, Bisulli F, Tassi L, Tinuper P. Nobili L, et al. Curr Neurol Neurosci Rep. 2014 Feb;14(2):424. doi: 10.1007/s11910-013-0424-6. Curr Neurol Neurosci Rep. 2014. PMID: 24395520 Free article. Review.

3

Auditory aura in nocturnal frontal lobe epilepsy: a red flag to suspect an extra-frontal epileptogenic zone.

Ferri L, Bisulli F, Nobili L, Tassi L, Licchetta L, Mostacci B, Stipa C, Mainieri G, Bernabè G, Provini F, Tinuper P. Ferri L, et al. Among authors: nobili l. Sleep Med. 2014 Nov;15(11):1417-23. doi: 10.1016/j.sleep.2014.06.019. Epub 2014 Aug 15. Sleep Med. 2014. PMID: 25224073 Free PMC article.

4

Definition and diagnostic criteria of sleep-related hypermotor epilepsy.

Tinuper P, Bisulli F, Cross JH, Hesdorffer D, Kahane P, Nobili L, Provini F, Scheffer IE, Tassi L, Vignatelli L, Bassetti C, Cirignotta F, Derry C, Gambardella A, Guerrini R, Halasz P, Licchetta L, Mahowald M, Manni R, Marini C, Mostacci B, Naldi I, Parrino L, Picard F, Pugliatti M, Ryvlin P, Vigevano F, Zucconi M, Berkovic S, Ottman R. Tinuper P, et al. Among authors: nobili l. Neurology. 2016 May 10;86(19):1834-42. doi: 10.1212/WNL.0000000000002666. Epub 2016 Apr 15. Neurology. 2016. PMID: 27164717 Free PMC article. Review.

5

A stereo EEG study in a patient with sleep-related hypermotor epilepsy due to DEPDC5 mutation.

Ferri L, Bisulli F, Mai R, Licchetta L, Leta C, Nobili L, Mostacci B, Pippucci T, Tinuper P. Ferri L, et al. Among authors: nobili l. Seizure. 2017 Dec;53:51-54. doi: 10.1016/j.seizure.2017.10.022. Epub 2017 Nov 4. Seizure. 2017. PMID: 29125946 Free article.

6

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

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. Rubboli G, et al. Among authors: nobili l. Ann Clin Transl Neurol. 2018 Dec 25;6(2):386-391. doi: 10.1002/acn3.708. eCollection 2019 Feb. Ann Clin Transl Neurol. 2018. PMID: 30847371 Free PMC article.

7

Clinical features of sleep-related hypermotor epilepsy in relation to the seizure-onset zone: A review of 135 surgically treated cases.

Gibbs SA, Proserpio P, Francione S, Mai R, Cardinale F, Sartori I, Castana L, Plazzi G, Tinuper P, Cossu M, Russo GL, Tassi L, Nobili L. Gibbs SA, et al. Among authors: nobili l. Epilepsia. 2019 Apr;60(4):707-717. doi: 10.1111/epi.14690. Epub 2019 Mar 13. Epilepsia. 2019. PMID: 30866067 Review.

8

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.

Epi25 Collaborative. Electronic address: jm4279@cumc.columbia.edu; Epi25 Collaborative. Epi25 Collaborative. Electronic address: jm4279@cumc.columbia.edu, et al. Am J Hum Genet. 2021 Jun 3;108(6):965-982. doi: 10.1016/j.ajhg.2021.04.009. Epub 2021 Apr 30. Am J Hum Genet. 2021. PMID: 33932343 Free PMC article.

9

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.

Epi25 Collaborative. Electronic address: jm4279@cumc.columbia.edu; Epi25 Collaborative. Epi25 Collaborative. Electronic address: jm4279@cumc.columbia.edu, et al. Am J Hum Genet. 2021 Oct 7;108(10):2024. doi: 10.1016/j.ajhg.2021.08.008. Am J Hum Genet. 2021. PMID: 34626584 Free PMC article. No abstract available.

10

Intracerebral recordings of minor motor events, paroxysmal arousals and major seizures in nocturnal frontal lobe epilepsy.

Nobili L, Sartori I, Terzaghi M, Tassi L, Mai R, Francione S, Cossu M, Cardinale F, Castana L, Lo Russo G. Nobili L, et al. Neurol Sci. 2005 Dec;26 Suppl 3:s215-9. doi: 10.1007/s10072-005-0490-x. Neurol Sci. 2005. PMID: 16331399

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