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505 results

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Page 1
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: andermann f. Ann Neurol. 2017 May;81(5):677-689. doi: 10.1002/ana.24929. Ann Neurol. 2017. PMID: 28380698
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
Muona M, Berkovic SF, Dibbens LM, Oliver KL, Maljevic S, Bayly MA, Joensuu T, Canafoglia L, Franceschetti S, Michelucci R, Markkinen S, Heron SE, Hildebrand MS, Andermann E, Andermann F, Gambardella A, Tinuper P, Licchetta L, Scheffer IE, Criscuolo C, Filla A, Ferlazzo E, Ahmad J, Ahmad A, Baykan B, Said E, Topcu M, Riguzzi P, King MD, Ozkara C, Andrade DM, Engelsen BA, Crespel A, Lindenau M, Lohmann E, Saletti V, Massano J, Privitera M, Espay AJ, Kauffmann B, Duchowny M, Møller RS, Straussberg R, Afawi Z, Ben-Zeev B, Samocha KE, Daly MJ, Petrou S, Lerche H, Palotie A, Lehesjoki AE. Muona M, et al. Among authors: andermann e, andermann f. Nat Genet. 2015 Jan;47(1):39-46. doi: 10.1038/ng.3144. Epub 2014 Nov 17. Nat Genet. 2015. PMID: 25401298 Free PMC article.
SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.
Dibbens LM, Michelucci R, Gambardella A, Andermann F, Rubboli G, Bayly MA, Joensuu T, Vears DF, Franceschetti S, Canafoglia L, Wallace R, Bassuk AG, Power DA, Tassinari CA, Andermann E, Lehesjoki AE, Berkovic SF. Dibbens LM, et al. Among authors: andermann e, andermann f. Ann Neurol. 2009 Oct;66(4):532-6. doi: 10.1002/ana.21765. Ann Neurol. 2009. PMID: 19847901
Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder.
Badhwar A, Berkovic SF, Dowling JP, Gonzales M, Narayanan S, Brodtmann A, Berzen L, Caviness J, Trenkwalder C, Winkelmann J, Rivest J, Lambert M, Hernandez-Cossio O, Carpenter S, Andermann F, Andermann E. Badhwar A, et al. Among authors: andermann e, andermann f. Brain. 2004 Oct;127(Pt 10):2173-82. doi: 10.1093/brain/awh263. Epub 2004 Sep 13. Brain. 2004. PMID: 15364701
The idiopathic generalized epilepsies across life.
Andermann F, Berkovic S. Andermann F, et al. Suppl Clin Neurophysiol. 2004;57:408-14. doi: 10.1016/s1567-424x(09)70378-2. Suppl Clin Neurophysiol. 2004. PMID: 16106640 Review. No abstract available.
A life in epilepsy.
Andermann E, Andermann F. Andermann E, et al. Among authors: andermann f. Epilepsia. 2010 Feb;51 Suppl 1:101-3. doi: 10.1111/j.1528-1167.2009.02462.x. Epilepsia. 2010. PMID: 20331732 Free article. No abstract available.
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
Berkovic SF, Oliver KL, Canafoglia L, Krieger P, Damiano JA, Hildebrand MS, Morbin M, Vears DF, Sofia V, Giuliano L, Garavaglia B, Simonati A, Santorelli FM, Gambardella A, Labate A, Belcastro V, Castellotti B, Ozkara C, Zeman A, Rankin J, Mole SE, Aguglia U, Farrell M, Rajagopalan S, McDougall A, Brammah S, Andermann F, Andermann E, Dahl HM, Franceschetti S, Carpenter S. Berkovic SF, et al. Among authors: andermann f. Brain. 2019 Jan 1;142(1):59-69. doi: 10.1093/brain/awy297. Brain. 2019. PMID: 30561534
Progressive myoclonus epilepsies: clinical and genetic aspects.
Berkovic SF, Cochius J, Andermann E, Andermann F. Berkovic SF, et al. Among authors: andermann e, andermann f. Epilepsia. 1993;34 Suppl 3:S19-30. doi: 10.1111/j.1528-1167.1993.tb06256.x. Epilepsia. 1993. PMID: 8500430 Review.
505 results