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Items: 1 to 50 of 493

1.

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.

Brain. 2019 Jan 1;142(1):59-69. doi: 10.1093/brain/awy297.

PMID:
30561534
2.

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.

Ann Neurol. 2017 May;81(5):677-689. doi: 10.1002/ana.24929.

PMID:
28380698
3.

Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders.

Rosewich H, Sweney MT, DeBrosse S, Ess K, Ozelius L, Andermann E, Andermann F, Andrasco G, Belgrade A, Brashear A, Ciccodicola S, Egan L, George AL Jr, Lewelt A, Magelby J, Merida M, Newcomb T, Platt V, Poncelin D, Reyna S, Sasaki M, Sotero de Menezes M, Sweadner K, Viollet L, Zupanc M, Silver K, Swoboda K.

Neurol Genet. 2017 Mar 2;3(2):e139. doi: 10.1212/NXG.0000000000000139. eCollection 2017 Apr.

4.

Action Myoclonus – Renal Failure Syndrome.

Amrom D, Andermann F, Andermann E.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2015 Dec 17.

5.

Brivaracetam in Unverricht-Lundborg disease (EPM1): Results from two randomized, double-blind, placebo-controlled studies.

Kälviäinen R, Genton P, Andermann E, Andermann F, Magaudda A, Frucht SJ, Schlit AF, Gerard D, de la Loge C, von Rosenstiel P.

Epilepsia. 2016 Feb;57(2):210-21. doi: 10.1111/epi.13275. Epub 2015 Dec 15.

6.

Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.

Viollet L, Glusman G, Murphy KJ, Newcomb TM, Reyna SP, Sweney M, Nelson B, Andermann F, Andermann E, Acsadi G, Barbano RL, Brown C, Brunkow ME, Chugani HT, Cheyette SR, Collins A, DeBrosse SD, Galas D, Friedman J, Hood L, Huff C, Jorde LB, King MD, LaSalle B, Leventer RJ, Lewelt AJ, Massart MB, Mérida MR 2nd, Ptáček LJ, Roach JC, Rust RS, Renault F, Sanger TD, Sotero de Menezes MA, Tennyson R, Uldall P, Zhang Y, Zupanc M, Xin W, Silver K, Swoboda KJ.

PLoS One. 2015 Aug 31;10(8):e0137370. doi: 10.1371/journal.pone.0137370. eCollection 2015. No abstract available.

7.

The histopathology of polymicrogyria: a series of 71 brain autopsy studies.

Jansen AC, Robitaille Y, Honavar M, Mullatti N, Leventer RJ, Andermann E, Andermann F, Squier W.

Dev Med Child Neurol. 2016 Jan;58(1):39-48. doi: 10.1111/dmcn.12840. Epub 2015 Jul 14.

8.

Rasmussen encephalitis and comorbid autoimmune diseases: A window into disease mechanism?

Amrom D, Kinay D, Andermann F, Andermann E.

Neurology. 2015 Apr 21;84(16):1721. No abstract available.

PMID:
26082956
9.

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.

Viollet L, Glusman G, Murphy KJ, Newcomb TM, Reyna SP, Sweney M, Nelson B, Andermann F, Andermann E, Acsadi G, Barbano RL, Brown C, Brunkow ME, Chugani HT, Cheyette SR, Collins A, DeBrosse SD, Galas D, Friedman J, Hood L, Huff C, Jorde LB, King MD, LaSalle B, Leventer RJ, Lewelt AJ, Massart MB, Mérida MR 2nd, Ptáček LJ, Roach JC, Rust RS, Renault F, Sanger TD, Sotero de Menezes MA, Tennyson R, Uldall P, Zhang Y, Zupanc M, Xin W, Silver K, Swoboda KJ.

PLoS One. 2015 May 21;10(5):e0127045. doi: 10.1371/journal.pone.0127045. eCollection 2015. Erratum in: PLoS One. 2015;10(8):e0137370.

10.

Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations.

Baulac S, Ishida S, Marsan E, Miquel C, Biraben A, Nguyen DK, Nordli D, Cossette P, Nguyen S, Lambrecq V, Vlaicu M, Daniau M, Bielle F, Andermann E, Andermann F, Leguern E, Chassoux F, Picard F.

Ann Neurol. 2015 Apr;77(4):675-83. doi: 10.1002/ana.24368. Epub 2015 Mar 13.

PMID:
25623524
11.

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.

Nat Genet. 2015 Jan;47(1):39-46. doi: 10.1038/ng.3144. Epub 2014 Nov 17.

12.

"Mirror EPC": epilepsia partialis continua shifting sides after rolandic resection in dysplasia.

Hemb M, Paglioli E, Dubeau F, Andermann F, Olivier A, da Costa JC, Martins WA, Nunes ML, Palmini A.

Neurology. 2014 Oct 14;83(16):1439-43. doi: 10.1212/WNL.0000000000000878. Epub 2014 Sep 12.

13.

Rasmussen encephalitis and comorbid autoimmune diseases: A window into disease mechanism?

Amrom D, Kinay D, Hart Y, Berkovic SF, Laxer K, Andermann F, Andermann E, Bar-Or A.

Neurology. 2014 Sep 16;83(12):1049-55. doi: 10.1212/WNL.0000000000000791. Epub 2014 Aug 20.

14.

A new locus for familial temporal lobe epilepsy on chromosome 3q.

Chahine L, Abou-Khalil B, Siren A, Andermann F, Hedera P, Ge Q, Andermann E, Pandolfo M.

Epilepsy Res. 2013 Oct;106(3):338-44. doi: 10.1016/j.eplepsyres.2013.07.007. Epub 2013 Aug 14.

PMID:
24021842
15.

Hypothalamic hamartomas. Part 2. Surgical considerations and outcome.

Mittal S, Mittal M, Montes JL, Farmer JP, Andermann F.

Neurosurg Focus. 2013 Jun;34(6):E7. doi: 10.3171/2013.3.FOCUS1356. Review.

PMID:
23724841
16.

Hypothalamic hamartomas. Part 1. Clinical, neuroimaging, and neurophysiological characteristics.

Mittal S, Mittal M, Montes JL, Farmer JP, Andermann F.

Neurosurg Focus. 2013 Jun;34(6):E6. doi: 10.3171/2013.3.FOCUS1355. Review.

PMID:
23724840
17.

Rasmussen encephalitis.

Granata T, Andermann F.

Handb Clin Neurol. 2013;111:511-9. doi: 10.1016/B978-0-444-52891-9.00054-3. Review.

PMID:
23622199
18.

Mutations in DEPDC5 cause familial focal epilepsy with variable foci.

Dibbens LM, de Vries B, Donatello S, Heron SE, Hodgson BL, Chintawar S, Crompton DE, Hughes JN, Bellows ST, Klein KM, Callenbach PM, Corbett MA, Gardner AE, Kivity S, Iona X, Regan BM, Weller CM, Crimmins D, O'Brien TJ, Guerrero-López R, Mulley JC, Dubeau F, Licchetta L, Bisulli F, Cossette P, Thomas PQ, Gecz J, Serratosa J, Brouwer OF, Andermann F, Andermann E, van den Maagdenberg AM, Pandolfo M, Berkovic SF, Scheffer IE.

Nat Genet. 2013 May;45(5):546-51. doi: 10.1038/ng.2599. Epub 2013 Mar 31.

PMID:
23542697
19.

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.

Smith KR, Dahl HH, Canafoglia L, Andermann E, Damiano J, Morbin M, Bruni AC, Giaccone G, Cossette P, Saftig P, Grötzinger J, Schwake M, Andermann F, Staropoli JF, Sims KB, Mole SE, Franceschetti S, Alexander NA, Cooper JD, Chapman HA, Carpenter S, Berkovic SF, Bahlo M.

Hum Mol Genet. 2013 Apr 1;22(7):1417-23. doi: 10.1093/hmg/dds558. Epub 2013 Jan 7.

20.

Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.

Cadieux-Dion M, Andermann E, Lachance-Touchette P, Ansorge O, Meloche C, Barnabé A, Kuzniecky RI, Andermann F, Faught E, Leonberg S, Damiano JA, Berkovic SF, Rouleau GA, Cossette P.

Clin Genet. 2013 Jun;83(6):571-5. doi: 10.1111/cge.12020. Epub 2012 Nov 7.

PMID:
22978711
21.

Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis.

Pisano T, Barkovich AJ, Leventer RJ, Squier W, Scheffer IE, Parrini E, Blaser S, Marini C, Robertson S, Tortorella G, Rosenow F, Thomas P, McGillivray G, Andermann E, Andermann F, Berkovic SF, Dobyns WB, Guerrini R.

Neurology. 2012 Sep 18;79(12):1244-51. doi: 10.1212/WNL.0b013e31826aac88. Epub 2012 Aug 22.

22.

Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.

Rosenfeld JA, Amrom D, Andermann E, Andermann F, Veilleux M, Curry C, Fisher J, Deputy S, Aylsworth AS, Powell CM, Manickam K, Heese B, Maisenbacher M, Stevens C, Ellison JW, Upton S, Moeschler J, Torres-Martinez W, Stevens A, Marion R, Pereira EM, Babcock M, Morrow B, Sahoo T, Lamb AN, Ballif BC, Paciorkowski AR, Shaffer LG.

Neurogenetics. 2012 Feb;13(1):31-47. doi: 10.1007/s10048-011-0306-5. Epub 2012 Jan 5.

PMID:
22218741
23.

Neurolathyrism in vapniarka: medical heroism in a concentration Camp.

Garfinkle J, Andermann F, Shevell MI.

Can J Neurol Sci. 2011 Nov;38(6):839-44. Review.

PMID:
22030420
24.

A century of achievements.

Wolf P, Lund S, Acevedo C, Andermann F, Avanzini G, Lee P, Reynolds EH.

Epilepsia. 2011 May;52(5):1025-30. doi: 10.1111/j.1528-1167.2011.03062.x. No abstract available.

25.

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.

Arsov T, Smith KR, Damiano J, Franceschetti S, Canafoglia L, Bromhead CJ, Andermann E, Vears DF, Cossette P, Rajagopalan S, McDougall A, Sofia V, Farrell M, Aguglia U, Zini A, Meletti S, Morbin M, Mullen S, Andermann F, Mole SE, Bahlo M, Berkovic SF.

Am J Hum Genet. 2011 May 13;88(5):566-73. doi: 10.1016/j.ajhg.2011.04.004. Epub 2011 May 5.

26.

Language lateralization in individuals with callosal agenesis: an fMRI study.

Pelletier I, Paquette N, Lepore F, Rouleau I, Sauerwein CH, Rosa C, Leroux JM, Gravel P, Valois K, Andermann F, Saint-Amour D, Lassonde M.

Neuropsychologia. 2011 Jun;49(7):1987-95. doi: 10.1016/j.neuropsychologia.2011.03.028. Epub 2011 Apr 4.

PMID:
21447350
27.

Encephalopathy with neuroserpin inclusion bodies presenting as progressive myoclonus epilepsy and associated with a novel mutation in the Proteinase Inhibitor 12 gene.

Hagen MC, Murrell JR, Delisle MB, Andermann E, Andermann F, Guiot MC, Ghetti B.

Brain Pathol. 2011 Sep;21(5):575-82. doi: 10.1111/j.1750-3639.2011.00481.x. Epub 2011 Mar 24.

28.

Benign mesial temporal lobe epilepsy.

Labate A, Gambardella A, Andermann E, Aguglia U, Cendes F, Berkovic SF, Andermann F.

Nat Rev Neurol. 2011 Apr;7(4):237-40. doi: 10.1038/nrneurol.2010.212. Epub 2011 Jan 25. Review.

PMID:
21263461
29.

Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia.

Chung SK, Vanbellinghen JF, Mullins JG, Robinson A, Hantke J, Hammond CL, Gilbert DF, Freilinger M, Ryan M, Kruer MC, Masri A, Gurses C, Ferrie C, Harvey K, Shiang R, Christodoulou J, Andermann F, Andermann E, Thomas RH, Harvey RJ, Lynch JW, Rees MI.

J Neurosci. 2010 Jul 14;30(28):9612-20. doi: 10.1523/JNEUROSCI.1763-10.2010.

30.

Migraine and epilepsy.

Kossoff EH, Andermann F.

Semin Pediatr Neurol. 2010 Jun;17(2):117-22. doi: 10.1016/j.spen.2010.04.005. Review.

PMID:
20541104
31.

Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients.

Leventer RJ, Jansen A, Pilz DT, Stoodley N, Marini C, Dubeau F, Malone J, Mitchell LA, Mandelstam S, Scheffer IE, Berkovic SF, Andermann F, Andermann E, Guerrini R, Dobyns WB.

Brain. 2010 May;133(Pt 5):1415-27. doi: 10.1093/brain/awq078. Epub 2010 Apr 19.

32.

A life in epilepsy.

Andermann E, Andermann F.

Epilepsia. 2010 Feb;51 Suppl 1:101-3. doi: 10.1111/j.1528-1167.2009.02462.x. No abstract available.

33.

The effective and ethical use of voluntary induction of psychogenic drop attacks in a patient with idiopathic generalized epilepsy.

Wilner A, Keezer MR, Andermann F.

Epilepsy Behav. 2010 Apr;17(4):569-70. doi: 10.1016/j.yebeh.2010.02.001. Epub 2010 Mar 16.

PMID:
20236869
34.

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.

Ann Neurol. 2009 Oct;66(4):532-6. doi: 10.1002/ana.21765.

PMID:
19847901
35.

Inherited cavernous malformations of the central nervous system: clinical and genetic features in 19 Swiss families.

Graeni C, Stepper F, Sturzenegger M, Merlo A, Verlaan DJ, Andermann F, Baumann CR, Bonassin F, Georgiadis D, Baumgartner RW, Rouleau GA, Siegel AM.

Neurosurg Rev. 2010 Jan;33(1):47-51. doi: 10.1007/s10143-009-0225-1. Epub 2009 Sep 17.

PMID:
19760287
36.

Long-term seizure outcome after corpus callosotomy: a retrospective analysis of 95 patients.

Tanriverdi T, Olivier A, Poulin N, Andermann F, Dubeau F.

J Neurosurg. 2009 Feb;110(2):332-42. doi: 10.3171/2008.3.17570.

PMID:
19245287
37.

Stressors at the onset of adult epilepsy: implications for practice.

Koutsogiannopoulos S, Adelson F, Lee V, Andermann F.

Epileptic Disord. 2009 Mar;11(1):42-7. doi: 10.1684/epd.2009.0236. Epub 2009 Feb 20.

38.

Surgery for pharmacoresistant epilepsy in the developing world: A pilot study.

Boling W, Palade A, Wabulya A, Longoni N, Warf B, Nestor S, Alpitsis R, Bittar R, Howard C, Andermann F.

Epilepsia. 2009 May;50(5):1256-61. doi: 10.1111/j.1528-1167.2008.01984.x. Epub 2009 Jan 19.

39.

Surgical treatment of independent bitemporal lobe epilepsy defined by invasive recordings.

Boling W, Aghakhani Y, Andermann F, Sziklas V, Olivier A.

J Neurol Neurosurg Psychiatry. 2009 May;80(5):533-8. doi: 10.1136/jnnp.2008.155291. Epub 2008 Dec 5.

PMID:
19060021
40.

Rasmussen's encephalitis and Behcet's disease: autoimmune disorders in first degree relatives.

Kinay D, Bebek N, Vanli E, Gurses C, Gokyigit A, Andermann F.

Epileptic Disord. 2008 Dec;10(4):319-24. doi: 10.1684/epd.2008.0228.

41.

Late-onset epilepsy in a surgically-treated Sturge-Weber patient.

Jacobs J, Levan P, Olivier A, Andermann F, Dubeau F.

Epileptic Disord. 2008 Dec;10(4):312-8. doi: 10.1684/epd.2008.0226.

42.

Pathways of seizure propagation from the temporal to the occipital lobe.

Jacobs J, Dubeau F, Olivier A, Andermann F.

Epileptic Disord. 2008 Dec;10(4):266-70. doi: 10.1684/epd.2008.0217.

43.

Refractory and lethal status epilepticus in a patient with ring chromosome 20 syndrome.

Jacobs J, Bernard G, Andermann E, Dubeau F, Andermann F.

Epileptic Disord. 2008 Dec;10(4):254-9. doi: 10.1684/epd.2008.0212.

44.

Small focal cortical dysplasia lesions are located at the bottom of a deep sulcus.

Besson P, Andermann F, Dubeau F, Bernasconi A.

Brain. 2008 Dec;131(Pt 12):3246-55. doi: 10.1093/brain/awn224. Epub 2008 Sep 23.

PMID:
18812443
45.

Alpha-[11C]methyl-L-tryptophan uptake in patients with periventricular nodular heterotopia and epilepsy.

Natsume J, Bernasconi N, Aghakhani Y, Kumakura Y, Nishikawa M, Fedi M, Soualmi L, Dubeau F, Andermann F, Bernasconi A, Diksic M.

Epilepsia. 2008 May;49(5):826-31. doi: 10.1111/j.1528-1167.2008.01575.x. Epub 2008 Mar 20.

46.

Long-term seizure outcome after mesial temporal lobe epilepsy surgery: corticalamygdalohippocampectomy versus selective amygdalohippocampectomy.

Tanriverdi T, Olivier A, Poulin N, Andermann F, Dubeau F.

J Neurosurg. 2008 Mar;108(3):517-24. doi: 10.3171/JNS/2008/108/3/0517.

PMID:
18312099
47.

Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.

Berkovic SF, Dibbens LM, Oshlack A, Silver JD, Katerelos M, Vears DF, Lüllmann-Rauch R, Blanz J, Zhang KW, Stankovich J, Kalnins RM, Dowling JP, Andermann E, Andermann F, Faldini E, D'Hooge R, Vadlamudi L, Macdonell RA, Hodgson BL, Bayly MA, Savige J, Mulley JC, Smyth GK, Power DA, Saftig P, Bahlo M.

Am J Hum Genet. 2008 Mar;82(3):673-84. doi: 10.1016/j.ajhg.2007.12.019. Epub 2008 Feb 28.

48.

Levetiracetam for the treatment of idiopathic generalized epilepsy with myoclonic seizures.

Noachtar S, Andermann E, Meyvisch P, Andermann F, Gough WB, Schiemann-Delgado J; N166 Levetiracetam Study Group.

Neurology. 2008 Feb 19;70(8):607-16. doi: 10.1212/01.wnl.0000297512.18364.40.

PMID:
18285535
49.

Leucoencephalopathy with vanishing white matter may cause progressive myoclonus epilepsy.

Jansen AC, Andermann E, Niel F, Creveaux I, Boespflug-Tanguy O, Andermann F.

Epilepsia. 2008 May;49(5):910-3. doi: 10.1111/j.1528-1167.2008.01542.x. Epub 2008 Feb 7.

50.

Limited chronic focal encephalitis: another variant of Rasmussen syndrome?

Gambardella A, Andermann F, Shorvon S, Le Piane E, Aguglia U.

Neurology. 2008 Jan 29;70(5):374-7. doi: 10.1212/01.wnl.0000298723.96653.99.

PMID:
18227418

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