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Items: 1 to 50 of 226

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.

Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development.

Smith RS, Kenny CJ, Ganesh V, Jang A, Borges-Monroy R, Partlow JN, Hill RS, Shin T, Chen AY, Doan RN, Anttonen AK, Ignatius J, Medne L, Bönnemann CG, Hecht JL, Salonen O, Barkovich AJ, Poduri A, Wilke M, de Wit MCY, Mancini GMS, Sztriha L, Im K, Amrom D, Andermann E, Paetau R, Lehesjoki AE, Walsh CA, Lehtinen MK.

Neuron. 2018 Sep 5;99(5):905-913.e7. doi: 10.1016/j.neuron.2018.07.052. Epub 2018 Aug 23.

PMID:
30146301
3.

Evidence of linkage to chromosome 5p13.2-q11.1 in a large inbred family with genetic generalized epilepsy.

Kinay D, Oliver KL, Tüzün E, Damiano JA, Ulusoy C, Andermann E, Hildebrand MS, Bahlo M, Berkovic SF.

Epilepsia. 2018 Aug;59(8):e125-e129. doi: 10.1111/epi.14506. Epub 2018 Jul 4.

PMID:
29974457
4.

Psychiatric and cognitive adverse events: A pooled analysis of three phase III trials of adjunctive eslicarbazepine acetate for partial-onset seizures.

Andermann E, Biton V, Benbadis SR, Shneker B, Shah AK, Carreño M, Trinka E, Ben-Menachem E, Biraben A, Rocha F, Gama H, Cheng H, Blum D; Study 301, 302 and 304 Investigators.

Epilepsy Behav. 2018 May;82:119-127. doi: 10.1016/j.yebeh.2017.12.017. Epub 2018 Mar 28.

5.

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
6.

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.

7.

Myoclonus and seizures in progressive myoclonus epilepsies: pharmacology and therapeutic trials.

Michelucci R, Pasini E, Riguzzi P, Andermann E, Kälviäinen R, Genton P.

Epileptic Disord. 2016 Sep 1;18(S2):145-153. Review.

PMID:
27629998
8.

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.

9.

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.

10.

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.

11.

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.

12.

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
13.

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.

14.

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
15.

Progressive Myoclonus Epilepsy, Lafora Type.

Jansen AC, 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.
2007 Dec 28 [updated 2015 Jan 22].

16.

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.

17.

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.

18.

Somatic mutations in cerebral cortical malformations.

Jamuar SS, Lam AT, Kircher M, D'Gama AM, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Mehta BK, Topcu M, Amrom D, Andermann E, Dan B, Parrini E, Guerrini R, Scheffer IE, Berkovic SF, Leventer RJ, Shen Y, Wu BL, Barkovich AJ, Sahin M, Chang BS, Bamshad M, Nickerson DA, Shendure J, Poduri A, Yu TW, Walsh CA.

N Engl J Med. 2014 Aug 21;371(8):733-43. doi: 10.1056/NEJMoa1314432.

19.

A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French-Canadian population.

Martin C, Meloche C, Rioux MF, Nguyen DK, Carmant L, Andermann E, Gravel M, Cossette P.

Clin Genet. 2014 Dec;86(6):570-4. doi: 10.1111/cge.12311. Epub 2013 Nov 27.

PMID:
24283814
20.

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
21.

Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.

Mulley JC, Hodgson B, McMahon JM, Iona X, Bellows S, Mullen SA, Farrell K, Mackay M, Sadleir L, Bleasel A, Gill D, Webster R, Wirrell EC, Harbord M, Sisodiya S, Andermann E, Kivity S, Berkovic SF, Scheffer IE, Dibbens LM.

Epilepsia. 2013 Sep;54(9):e122-6. doi: 10.1111/epi.12323. Epub 2013 Jul 29.

22.

SCN1A testing for epilepsy: application in clinical practice.

Hirose S, Scheffer IE, Marini C, De Jonghe P, Andermann E, Goldman AM, Kauffman M, Tan NC, Lowenstein DH, Sisodiya SM, Ottman R, Berkovic SF; Genetics Commission of the International League Against Epilepsy.

Epilepsia. 2013 May;54(5):946-52. doi: 10.1111/epi.12168. Epub 2013 Apr 15.

23.

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
24.

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.

25.

Mutations in TMEM231 cause Joubert syndrome in French Canadians.

Srour M, Hamdan FF, Schwartzentruber JA, Patry L, Ospina LH, Shevell MI, Désilets V, Dobrzeniecka S, Mathonnet G, Lemyre E, Massicotte C, Labuda D, Amrom D, Andermann E, Sébire G, Maranda B; FORGE Canada Consortium, Rouleau GA, Majewski J, Michaud JL.

J Med Genet. 2012 Oct;49(10):636-41. doi: 10.1136/jmedgenet-2012-101132. Epub 2012 Sep 25.

PMID:
23012439
26.

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
27.

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.

28.

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
29.

Rare copy number variants are an important cause of epileptic encephalopathies.

Mefford HC, Yendle SC, Hsu C, Cook J, Geraghty E, McMahon JM, Eeg-Olofsson O, Sadleir LG, Gill D, Ben-Zeev B, Lerman-Sagie T, Mackay M, Freeman JL, Andermann E, Pelakanos JT, Andrews I, Wallace G, Eichler EE, Berkovic SF, Scheffer IE.

Ann Neurol. 2011 Dec;70(6):974-85. doi: 10.1002/ana.22645.

30.

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.

31.

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.

32.

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
33.

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.

34.

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.

35.

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.

36.

Suggestive evidence for a new locus for epilepsy with heterogeneous phenotypes on chromosome 17q.

Sirén A, Polvi A, Chahine L, Labuda M, Bourgoin S, Anttonen AK, Kousi M, Hirvonen K, Simola KO, Andermann E, Laiho A, Soini J, Koivikko M, Laaksonen R, Pandolfo M, Lehesjoki AE.

Epilepsy Res. 2010 Jan;88(1):65-75. doi: 10.1016/j.eplepsyres.2009.09.022. Epub 2009 Nov 14.

PMID:
19914042
37.

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
38.

SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy.

Hannibal MC, Ruzzo EK, Miller LR, Betz B, Buchan JG, Knutzen DM, Barnett K, Landsverk ML, Brice A, LeGuern E, Bedford HM, Worrall BB, Lovitt S, Appel SH, Andermann E, Bird TD, Chance PF.

Neurology. 2009 May 19;72(20):1755-9. doi: 10.1212/WNL.0b013e3181a609e3.

39.

SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.

Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, McMahon JM, Iona X, Carpintero RS, Elia M, Cilio MR, Specchio N, Giordano L, Striano P, Gennaro E, Cross JH, Kivity S, Neufeld MY, Afawi Z, Andermann E, Keene D, Dulac O, Zara F, Berkovic SF, Guerrini R, Mulley JC.

Epilepsia. 2009 Jul;50(7):1670-8. doi: 10.1111/j.1528-1167.2009.02013.x. Epub 2009 Mar 12.

40.

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.

41.

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.

42.

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
43.

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.

44.

Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene.

Jansen AC, Cao H, Kaplan P, Silver K, Leonard G, De Meirleir L, Lissens W, Liebaers I, Veilleux M, Andermann F, Hegele RA, Andermann E.

Arch Neurol. 2007 Nov;64(11):1629-34.

PMID:
17998446
45.

Surgical outcome in tuberous sclerosis complex: a multicenter survey.

Madhavan D, Schaffer S, Yankovsky A, Arzimanoglou A, Renaldo F, Zaroff CM, LaJoie J, Weiner HL, Andermann E, Franz DN, Leonard J, Connolly M, Cascino GD, Devinsky O.

Epilepsia. 2007 Aug;48(8):1625-8. Epub 2007 May 1.

46.

Familial mesial temporal lobe epilepsy maps to chromosome 4q13.2-q21.3.

Hedera P, Blair MA, Andermann E, Andermann F, D'Agostino D, Taylor KA, Chahine L, Pandolfo M, Bradford Y, Haines JL, Abou-Khalil B.

Neurology. 2007 Jun 12;68(24):2107-12. Epub 2007 Mar 21.

PMID:
17377072
47.

The spectrum of SCN1A-related infantile epileptic encephalopathies.

Harkin LA, McMahon JM, Iona X, Dibbens L, Pelekanos JT, Zuberi SM, Sadleir LG, Andermann E, Gill D, Farrell K, Connolly M, Stanley T, Harbord M, Andermann F, Wang J, Batish SD, Jones JG, Seltzer WK, Gardner A; Infantile Epileptic Encephalopathy Referral Consortium, Sutherland G, Berkovic SF, Mulley JC, Scheffer IE.

Brain. 2007 Mar;130(Pt 3):843-52.

PMID:
17347258
48.

Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.

Jansen AC, Sancak O, D'Agostino MD, Badhwar A, Roberts P, Gobbi G, Wilkinson R, Melanson D, Tampieri D, Koenekoop R, Gans M, Maat-Kievit A, Goedbloed M, van den Ouweland AM, Nellist M, Pandolfo M, McQueen M, Sims K, Thiele EA, Dubeau F, Andermann F, Kwiatkowski DJ, Halley DJ, Andermann E.

Ann Neurol. 2006 Nov;60(5):528-39.

PMID:
17120248
49.

Developments in neuroacanthocytosis: expanding the spectrum of choreatic syndromes.

Walker RH, Danek A, Dobson-Stone C, Guerrini R, Jung HH, Lafontaine AL, Rampoldi L, Tison F, Andermann E.

Mov Disord. 2006 Nov;21(11):1794-805. Review.

PMID:
16958034
50.

Patterns of hippocampal abnormalities in malformations of cortical development.

Montenegro MA, Kinay D, Cendes F, Bernasconi A, Bernasconi N, Coan AC, Li LM, Guerreiro MM, Guerreiro CA, Lopes-Cendes I, Andermann E, Dubeau F, Andermann F.

J Neurol Neurosurg Psychiatry. 2006 Mar;77(3):367-71.

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