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Search life-sciences literature (45,104,145 articles, preprints and more)

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De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies.
EuroEPINOMICS-RES Consortium. Electronic address: [email protected], Epilepsy Phenome/Genome Project, Epi4K Consortium, EuroEPINOMICS-RES Consortium
Am J Hum Genet, 100(1):179, 01 Jan 2017
Cited by: 15 articles | PMID: 28061363 | PMCID: PMC5802994
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White matter involvement in a family with a novel PDGFB mutation.
Biancheri R, Severino M, Robbiano A, Iacomino M, Del Sette M, Minetti C, Cervasio M, Del Basso De Caro M, Striano P, Zara F
Neurol Genet, 2(3):e77, 05 May 2016
Cited by: 15 articles | PMID: 27227165 | PMCID: PMC4867655
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This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
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A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability.
Miceli F, Striano P, Soldovieri MV, Fontana A, Nardello R, Robbiano A, Bellini G, Elia M, Zara F, Taglialatela M, Mangano S
Epilepsia, 56(2):e15-20, 19 Dec 2014
Cited by: 40 articles | PMID: 25524373
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Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.
Carvill GL, McMahon JM, Schneider A, Zemel M, Myers CT, Saykally J, Nguyen J, Robbiano A, Zara F, Specchio N, Mecarelli O, Smith RL, Leventer RJ, Møller RS, Nikanorova M, Dimova P, Jordanova A, Petrou S, EuroEPINOMICS Rare Epilepsy Syndrome Myoclonic-Astatic Epilepsy & Dravet working group, [...] Mefford HC
Am J Hum Genet, 96(5):808-815, 09 Apr 2015
Cited by: 98 articles | PMID: 25865495 | PMCID: PMC4570550
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Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy.
Vanni N, Fruscione F, Ferlazzo E, Striano P, Robbiano A, Traverso M, Sander T, Falace A, Gazzerro E, Bramanti P, Bielawski J, Fassio A, Minetti C, Genton P, Zara F
Ann Neurol, 76(2):206-212, 20 May 2014
Cited by: 40 articles | PMID: 24782409
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Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.
Kasperaviciute D, Catarino CB, Matarin M, Leu C, Novy J, Tostevin A, Leal B, Hessel EV, Hallmann K, Hildebrand MS, Dahl HH, Ryten M, Trabzuni D, Ramasamy A, Alhusaini S, Doherty CP, Dorn T, Hansen J, Krämer G, [...] Sisodiya SM
Brain, 136(pt 10):3140-3150, 06 Sep 2013
Cited by: 92 articles | PMID: 24014518 | PMCID: PMC3784283
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This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
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De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.
EuroEPINOMICS-RES Consortium, Epilepsy Phenome/Genome Project, Epi4K Consortium
Am J Hum Genet, 95(4):360-370, 25 Sep 2014
Cited by: 265 articles | PMID: 25262651 | PMCID: PMC4185114
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De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.
Suls A, Jaehn JA, Kecskés A, Weber Y, Weckhuysen S, Craiu DC, Siekierska A, Djémié T, Afrikanova T, Gormley P, von Spiczak S, Kluger G, Iliescu CM, Talvik T, Talvik I, Meral C, Caglayan HS, Giraldez BG, Serratosa J, [...] EuroEPINOMICS RES Consortium
Am J Hum Genet, 93(5):967-975, 24 Oct 2013
Cited by: 119 articles | PMID: 24207121 | PMCID: PMC3824114
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Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus.
Canafoglia L, Robbiano A, Pareyson D, Panzica F, Nanetti L, Giovagnoli AR, Venerando A, Gellera C, Franceschetti S, Zara F
Neurology, 82(22):2003-2006, 07 May 2014
Cited by: 27 articles | PMID: 24808020
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De novo mutations in HCN1 cause early infantile epileptic encephalopathy.
Nava C, Dalle C, Rastetter A, Striano P, de Kovel CG, Nabbout R, Cancès C, Ville D, Brilstra EH, Gobbi G, Raffo E, Bouteiller D, Marie Y, Trouillard O, Robbiano A, Keren B, Agher D, Roze E, Lesage S, [...] Depienne C
Nat Genet, 46(6):640-645, 20 Apr 2014
Cited by: 128 articles | PMID: 24747641
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Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy.
Møller RS, Weber YG, Klitten LL, Trucks H, Muhle H, Kunz WS, Mefford HC, Franke A, Kautza M, Wolf P, Dennig D, Schreiber S, Rückert IM, Wichmann HE, Ernst JP, Schurmann C, Grabe HJ, Tommerup N, Stephani U, [...] EPICURE Consortium
Epilepsia, 54(2):256-264, 07 Jan 2013
Cited by: 45 articles | PMID: 23294455
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PRRT2-related disorders: further PKD and ICCA cases and review of the literature.
Becker F, Schubert J, Striano P, Anttonen AK, Liukkonen E, Gaily E, Gerloff C, Müller S, Heußinger N, Kellinghaus C, Robbiano A, Polvi A, Zittel S, von Oertzen TJ, Rostasy K, Schöls L, Warner T, Münchau A, Lehesjoki AE, [...] Weber YG
J Neurol, 260(5):1234-1244, 09 Jan 2013
Cited by: 34 articles | PMID: 23299620
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Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.
Zara F, Specchio N, Striano P, Robbiano A, Gennaro E, Paravidino R, Vanni N, Beccaria F, Capovilla G, Bianchi A, Caffi L, Cardilli V, Darra F, Bernardina BD, Fusco L, Gaggero R, Giordano L, Guerrini R, Incorpora G, [...] Minetti C
Epilepsia, 54(3):425-436, 29 Jan 2013
Cited by: 63 articles | PMID: 23360469
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Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I.
Assereto S, Robbiano A, Di Rocco M, Rossi A, Cassandrini D, Panicucci C, Brigati G, Biancheri R, Bruno C, Minetti C, Trucks H, Sander T, Zara F, Gazzerro E
Clin Genet, 86(1):99-101, 11 Sep 2013
Cited by: 3 articles | PMID: 24020637
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PRRT2 mutations are the major cause of benign familial infantile seizures.
Schubert J, Paravidino R, Becker F, Berger A, Bebek N, Bianchi A, Brockmann K, Capovilla G, Dalla Bernardina B, Fukuyama Y, Hoffmann GF, Jurkat-Rott K, Anttonen AK, Kurlemann G, Lehesjoki AE, Lehmann-Horn F, Mastrangelo M, Mause U, Müller S, [...] Weber YG
Hum Mutat, 33(10):1439-1443, 11 Jun 2012
Cited by: 53 articles | PMID: 22623405
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Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies.
EPICURE Consortium, Leu C, de Kovel CG, Zara F, Striano P, Pezzella M, Robbiano A, Bianchi A, Bisulli F, Coppola A, Giallonardo AT, Beccaria F, Trenité DK, Lindhout D, Gaus V, Schmitz B, Janz D, Weber YG, Becker F, [...] Sander T
Epilepsia, 53(2):308-318, 13 Jan 2012
Cited by: 22 articles | PMID: 22242659
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Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.
Striano P, Coppola A, Paravidino R, Malacarne M, Gimelli S, Robbiano A, Traverso M, Pezzella M, Belcastro V, Bianchi A, Elia M, Falace A, Gazzerro E, Ferlazzo E, Freri E, Galasso R, Gobbi G, Molinatto C, Cavani S, [...] Zara F
Arch Neurol, 69(3):322-330, 14 Nov 2011
Cited by: 38 articles | PMID: 22083797
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GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy.
Striano P, Weber YG, Toliat MR, Schubert J, Leu C, Chaimana R, Baulac S, Guerrero R, LeGuern E, Lehesjoki AE, Polvi A, Robbiano A, Serratosa JM, Guerrini R, Nürnberg P, Sander T, Zara F, Lerche H, Marini C, EPICURE Consortium
Neurology, 78(8):557-562, 25 Jan 2012
Cited by: 47 articles | PMID: 22282645
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Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.
EPICURE Consortium, EMINet Consortium, Steffens M, Leu C, Ruppert AK, Zara F, Striano P, Robbiano A, Capovilla G, Tinuper P, Gambardella A, Bianchi A, La Neve A, Crichiutti G, de Kovel CG, Kasteleijn-Nolst Trenité D, de Haan GJ, Lindhout D, Gaus V, [...] Sander T
Hum Mol Genet, 21(24):5359-5372, 04 Sep 2012
Cited by: 91 articles | PMID: 22949513
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Modeling the effect of 3 missense AGXT mutations on dimerization of the AGT enzyme in primary hyperoxaluria type 1.
Robbiano A, Frecer V, Miertus J, Zadro C, Ulivi S, Bevilacqua E, Mandrile G, De Marchi M, Miertus S, Amoroso A
J Nephrol, 23(6):667-676, 01 Nov 2010
Cited by: 6 articles | PMID: 20564000
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Familial cortical tremor and epilepsy: a well-defined syndrome with genetic heterogeneity waiting for nosological placement in the ILAE classification.
Striano P, Robbiano A, Zara F, Striano S
Epilepsy Behav, 19(4):669, 25 Oct 2010
Cited by: 5 articles | PMID: 20974551
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West syndrome associated with 14q12 duplications harboring FOXG1.
Striano P, Paravidino R, Sicca F, Chiurazzi P, Gimelli S, Coppola A, Robbiano A, Traverso M, Pintaudi M, Giovannini S, Operto F, Vigliano P, Granata T, Coppola G, Romeo A, Specchio N, Giordano L, Osborne LR, Gimelli G, [...] Zara F
Neurology, 76(18):1600-1602, 01 May 2011
Cited by: 40 articles | PMID: 21536641
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Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.
Williams EL, Acquaviva C, Amoroso A, Chevalier F, Coulter-Mackie M, Monico CG, Giachino D, Owen T, Robbiano A, Salido E, Waterham H, Rumsby G
Hum Mutat, 30(6):910-917, 01 Jun 2009
Cited by: 105 articles | PMID: 19479957
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Novel human pathological mutations. Gene symbol: AGXT. Disease: hyperoxaluria.
Robbiano A, Mandrile G, De Marchi M, Beck B, Baasner A, Murer L, Benetti E, Giachino D
Hum Genet, 127(4):468, 01 Apr 2010
Cited by: 4 articles | PMID: 21488232
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Primary hyperoxaluria: report of an Italian family with clear sex conditioned penetrance.
Mandrile G, Robbiano A, Giachino DF, Sebastiano R, Dondi E, Fenoglio R, Stratta P, Caruso MR, Petrarulo M, Marangella M, De Marchi M
Urol Res, 36(6):309-312, 05 Nov 2008
Cited by: 8 articles | PMID: 18985333
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