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SCN1A gain of function in early infantile encephalopathy.
Berecki G, Bryson A, Terhag J, Maljevic S, Gazina EV, Hill SL, Petrou S. Berecki G, et al. Among authors: petrou s. Ann Neurol. 2019 Apr;85(4):514-525. doi: 10.1002/ana.25438. Epub 2019 Mar 7. Ann Neurol. 2019. PMID: 30779207
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine.
Milligan CJ, Li M, Gazina EV, Heron SE, Nair U, Trager C, Reid CA, Venkat A, Younkin DP, Dlugos DJ, Petrovski S, Goldstein DB, Dibbens LM, Scheffer IE, Berkovic SF, Petrou S. Milligan CJ, et al. Among authors: petrou s. Ann Neurol. 2014 Apr;75(4):581-90. doi: 10.1002/ana.24128. Epub 2014 Apr 14. Ann Neurol. 2014. PMID: 24591078 Free PMC article.
A targeted resequencing gene panel for focal epilepsy.
Hildebrand MS, Myers CT, Carvill GL, Regan BM, Damiano JA, Mullen SA, Newton MR, Nair U, Gazina EV, Milligan CJ, Reid CA, Petrou S, Scheffer IE, Berkovic SF, Mefford HC. Hildebrand MS, et al. Among authors: petrou s. Neurology. 2016 Apr 26;86(17):1605-12. doi: 10.1212/WNL.0000000000002608. Epub 2016 Mar 30. Neurology. 2016. PMID: 27029629 Free PMC article.
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.
Corbett MA, Bellows ST, Li M, Carroll R, Micallef S, Carvill GL, Myers CT, Howell KB, Maljevic S, Lerche H, Gazina EV, Mefford HC, Bahlo M, Berkovic SF, Petrou S, Scheffer IE, Gecz J. Corbett MA, et al. Among authors: petrou s. Neurology. 2016 Nov 8;87(19):1975-1984. doi: 10.1212/WNL.0000000000003309. Epub 2016 Oct 12. Neurology. 2016. PMID: 27733563 Free PMC article.
Rare and common epilepsies converge on a shared gene regulatory network providing opportunities for novel antiepileptic drug discovery.
Delahaye-Duriez A, Srivastava P, Shkura K, Langley SR, Laaniste L, Moreno-Moral A, Danis B, Mazzuferi M, Foerch P, Gazina EV, Richards K, Petrou S, Kaminski RM, Petretto E, Johnson MR. Delahaye-Duriez A, et al. Among authors: petrou s. Genome Biol. 2016 Dec 13;17(1):245. doi: 10.1186/s13059-016-1097-7. Genome Biol. 2016. PMID: 27955713 Free PMC article.
Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties.
Oliver KL, Franceschetti S, Milligan CJ, Muona M, Mandelstam SA, Canafoglia L, Boguszewska-Chachulska AM, Korczyn AD, Bisulli F, Di Bonaventura C, Ragona F, Michelucci R, Ben-Zeev B, Straussberg R, Panzica F, Massano J, Friedman D, Crespel A, Engelsen BA, Andermann F, Andermann E, Spodar K, Lasek-Bal A, Riguzzi P, Pasini E, Tinuper P, Licchetta L, Gardella E, Lindenau M, Wulf A, Møller RS, Benninger F, Afawi Z, Rubboli G, Reid CA, Maljevic S, Lerche H, Lehesjoki AE, Petrou S, Berkovic SF. Oliver KL, et al. Among authors: petrou s. Ann Neurol. 2017 May;81(5):677-689. doi: 10.1002/ana.24929. Ann Neurol. 2017. PMID: 28380698
718 results