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1. Full Text Commentary: The genetic architecture of the epilepsies, as told by 8500 gene panels
by Helbig, Ingo
Epilepsia, ISSN 0013-9580, 05/2018, Volume 59, Issue 5, pp. 1072 - 1073
DIAGNOSIS | DISORDERS | PROGRESSIVE MYOCLONUS EPILEPSY | MUTATIONS | CLINICAL NEUROLOGY | Epilepsy - genetics | Neurodevelopmental Disorders - genetics | Genetic Testing | Humans | Epilepsy | Index Medicus
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2. Full Text Reply to “Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria”
by Goldberg, Ethan M and Helbig, Ingo
Annals of Neurology, ISSN 0364-5134, 07/2018, Volume 84, Issue 1, pp. 161 - 161
Polymicrogyria
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3. Full Text Understanding Genetic Test Results in Childhood Epilepsies
by Helbig, Ingo
Current Pediatrics Reports, ISSN 2167-4841, 3/2017, Volume 5, Issue 1, pp. 24 - 29
During the last 5 years, the number of genes identified as causes of childhood epilepsies has increased significantly. Within this review, the current state of... 
Exome | Pediatrics | Medicine & Public Health | Neurogenetics | Epilepsy | SCN2A | Gene panel | SCN1A
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4. Full Text Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy
by Mignot, Cyril and von Stülpnage, Celina and Nava, Caroline and Ville, Dorothée and Sanlaville, Damien and Lesca, Gaetan and Rastetter, Agnès and Gachet, Benoit and Marie, Yannick and Korenke, G. Christoph and Borggraefe, Ingo and Hoffmann-Zacharska, Dorota and Szczepanik, Elzbieta and Rudzka-Dybala, Mariola and Yiş, Uluç and Çağlayan, Hande and Isapof, Arnaud and Marey, Isabelle and Panagiotakaki, Eleni and Korff, Christian and Rossier, Eva and Riess, Angelika and Beck-Woedl, Stefanie and Rauch, Anita and Zweier, Christiane and Hoyer, Juliane and Reis, André and Mironov, Mikhail and Bobylova, Maria and Mukhin, Konstantin and Hernandez-Hernandez, Laura and Maher, Bridget and Sisodiya, Sanjay and Kuhn, Marius and Glaeser, Dieter and Wechuysen, Sarah and Myers, Candace T and Mefford, Heather C and Hörtnagel, Konstanze and Biskup, Saskia and Lemke, Johannes R and Héron, Delphine and Kluger, Gerhard and Depienne, Christel and Craiu, Dana and De Jonghe, Peter and Helbig, Ingo and Guerrini, Renzo and Lehesjoki, Anna-Elina and Marini, Carla and Muhle, Hiltrud and Møller, Rikke S and Neubauer, Bernd and Pal, Deb and Selmer, Kaja and Stephani, Ulrich and Sterbova, Katalin and Striano, Pasquale and Talvik, Tiina and von Spiczak, Sarah and EuroEPINOMICS-RES MAE Working Grp and EuroEPINOMICS-RES MAE working group
Journal of Medical Genetics, ISSN 0022-2593, 08/2016, Volume 53, Issue 8, pp. 511 - 522
Objective We aimed to delineate the neurodevelopmental spectrum associated with SYNGAP1 mutations and to investigate genotype-phenotype correlations. Methods... 
NMDA RECEPTOR | AUTISM | SEIZURES | DE-NOVO MUTATIONS | MENTAL-RETARDATION | SPEECH IMPAIRMENT | GENETICS & HEREDITY | SYNGAP1 CAUSE | GTPASE-ACTIVATING PROTEIN | SYNAPTIC PLASTICITY | HAPLOINSUFFICIENCY | Care and treatment | Epilepsy | Genetics | Nervous system | Degeneration | Research | Mental retardation | Patients | Health aspects | Life Sciences | Neurons and Cognition
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5. Full Text Commentary: PathogenicEFHC1mutations are tolerated in healthy individuals dependent on reported ancestry
by Pal, Deb and Helbig, Ingo
Epilepsia, ISSN 0013-9580, 02/2015, Volume 56, Issue 2, pp. 195 - 196
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6. Full Text Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy
by Helbig, Katherine L and Farwell Hagman, Kelly D and Shinde, Deepali N and Mroske, Cameron and Powis, Zöe and Li, Shuwei and Tang, Sha and Helbig, Ingo
Genetics in Medicine, ISSN 1098-3600, 09/2016, Volume 18, Issue 9, pp. 898 - 905
Purpose: To assess the yield of diagnostic exome sequencing (DES) and to characterize the molecular findings in characterized and novel disease genes in... 
epilepsy | seizure | whole-exome sequencing | diagnostic yield | epileptic encephalopathy | ENCEPHALOPATHIES | DISORDERS | GENOME | INTELLECTUAL DISABILITY | DE-NOVO MUTATIONS | GENETICS | GENES | GENETICS & HEREDITY | SPECTRUM | DELAY | REVEALS | Genetic Predisposition to Disease | Microtubule-Associated Proteins - genetics | Humans | Child, Preschool | Infant | Male | Mitochondrial Proteins - genetics | Epilepsy - physiopathology | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Whole Exome Sequencing - methods | Epilepsy - diagnosis | GTP Phosphohydrolases - genetics | Adolescent | Adult | Epilepsy - genetics | Female | Child | Pathology, Molecular | Infant, Newborn | Index Medicus
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7. Full Text Commentary: Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry
by Pal, Deb and Helbig, Ingo
Epilepsia, ISSN 0013-9580, 02/2015, Volume 56, Issue 2, pp. 195 - 196
Epilepsy, Generalized - genetics | Genetic Predisposition to Disease | Mutation - genetics | Humans | Calcium-Binding Proteins - genetics | Myoclonic Epilepsy, Juvenile - genetics | Index Medicus
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8. Full Text Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies
by Mefford, H.C and Muhle, H and Ostertag, P and Spiczak, S. von and Buysse, K and Baker, C and Franke, A and Malafosse, A and Genton, P and Thomas, P and Gurnett, C.A and Schreiber, S and Bassuk, A.G and Guipponi, M and Stephani, U and Helbig, I and Eichler, E.E
PLOS Genetics, ISSN 1553-7390, 2010, Volume 6, Issue 5, pp. e1000962 - e1000962
Epilepsy is one of the most common neurological disorders in humans with a prevalence of 1% and a lifetime incidence of 3%. Several genes have been identified... 
15Q13.3 MICRODELETIONS | MENTAL-RETARDATION | INCREASE RISK | RARE CHROMOSOMAL DELETIONS | CLINICAL SPECTRUM | GENETICS & HEREDITY | AUTISM SPECTRUM DISORDER | RECURRENT REARRANGEMENTS | SEVERE MYOCLONIC EPILEPSY | ARRAY CGH | PRADER-WILLI-SYNDROME | Genetic Variation | Epilepsy - genetics | Genetic Predisposition to Disease | Gene Dosage | Genome | Humans | Index Medicus | Studies | Autism | Pediatrics | Epilepsy | Classification | Schizophrenia | Genetics | Standard deviation | Genomes | Metabolic disorders
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9. Full Text Teaching NeuroImages: Atrophy in epileptic encephalopathy
by Helbig, Ingo and Adang, Laura
Neurology, ISSN 0028-3878, 01/2018, Volume 90, Issue 5, pp. e442 - e443
Neuroimaging in a 6-year-old girl with an unknown neurodegenerative disorder showed atrophy and bilateral thalamic T2/fluid-attenuated inversion recovery... 
CLINICAL NEUROLOGY | Atrophy - diagnostic imaging | Magnetic Resonance Imaging | Spasms, Infantile - physiopathology | Thalamus - diagnostic imaging | Humans | Female | Atrophy - etiology | Spasms, Infantile - diagnostic imaging | Child | Disease Progression | Index Medicus | Abridged Index Medicus
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10. Full Text Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
by Lemke, Johannes R and Lal, Dennis and Reinthaler, Eva M and Steiner, Isabelle and Nothnagel, Michael and Alber, Michael and Geider, Kirsten and Laube, Bodo and Schwake, Michael and Finsterwalder, Katrin and Franke, Andre and Schilhabel, Markus and Jähn, Johanna A and Muhle, Hiltrud and Boor, Rainer and Van Paesschen, Wim and Caraballo, Roberto and Fejerman, Natalio and Weckhuysen, Sarah and De Jonghe, Peter and Larsen, Jan and Møller, Rikke S and Hjalgrim, Helle and Addis, Laura and Tang, Shan and Hughes, Elaine and Pal, Deb K and Veri, Kadi and Vaher, Ulvi and Talvik, Tiina and Dimova, Petia and Guerrero López, Rosa and Serratosa, José M and Linnankivi, Tarja and Lehesjoki, Anna-Elina and Ruf, Susanne and Wolff, Markus and Buerki, Sarah and Wohlrab, Gabriele and Kroell, Judith and Datta, Alexandre N and Fiedler, Barbara and Kurlemann, Gerhard and Kluger, Gerhard and Hahn, Andreas and Haberlandt, D Edda and Kutzer, Christina and Sperner, Jürgen and Becker, Felicitas and Weber, Yvonne G and Feucht, Martha and Steinböck, Hannelore and Neophythou, Birgit and Ronen, Gabriel M and Gruber-Sedlmayr, Ursula and Geldner, Julia and Harvey, Robert J and Hoffmann, Per and Herms, Stefan and Altmüller, Janine and Toliat, Mohammad R and Thiele, Holger and Nürnberg, Peter and Wilhelm, Christian and Stephani, Ulrich and Helbig, Ingo and Lerche, Holger and Zimprich, Fritz and Neubauer, Bernd A and Biskup, Saskia and Von Spiczak, Sarah
Nature Genetics, ISSN 1061-4036, 09/2013, Volume 45, Issue 9, pp. 1067 - 1072
Idiopathic focal epilepsy (IFE) with rolandic spikes is the most common childhood epilepsy, comprising a phenotypic spectrum from rolandic epilepsy (also... 
NMDA RECEPTOR | CONTRIBUTE | SEIZURES | BENIGN | FAMILIES | GENETICS & HEREDITY | STATUS EPILEPTICUS | TERMINOLOGY | CLASSIFICATION | DISORDERS | CENTROTEMPORAL SHARP WAVES | Epilepsies, Partial - diagnosis | Humans | Receptors, N-Methyl-D-Aspartate - metabolism | Models, Molecular | Male | Mutation, Missense | Receptors, N-Methyl-D-Aspartate - genetics | Pedigree | Receptors, N-Methyl-D-Aspartate - chemistry | Female | Protein Conformation | Epilepsies, Partial - genetics | Mutation | Amino Acid Substitution | Genetic aspects | Research | Gene mutations | Health aspects | Epilepsy | Risk factors | Studies | Medical research | Genotype & phenotype | Biomedical research | Womens health | Index Medicus
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11. Full Text Advancing the phenome alongside the genome in epilepsy studies
by Helbig, Ingo and Lindhout, Dick
Neurology, ISSN 0028-3878, 07/2017, Volume 89, Issue 1, pp. 14 - 15
CLINICAL NEUROLOGY | MUTATIONS | Index Medicus | Abridged Index Medicus
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12. Full Text De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
by Syrbe, Steffen and Hedrich, Ulrike B.S and Riesch, Erik and Djémié, Tania and Müller, Stephan and Møller, Rikke S and Maher, Bridget and Hernandez-Hernandez, Laura and Synofzik, Matthis and Caglayan, Hande S and Arslan, Mutluay and Serratosa, José M and Nothnagel, Michael and May, Patrick and Krause, Roland and Löffler, Heidrun and Detert, Katja and Dorn, Thomas and Vogt, Heinrich and Krämer, Günter and Schöls, Ludger and Mullis, Primus E and Linnankivi, Tarja and Lehesjoki, Anna-Elina and Sterbova, Katalin and Craiu, Dana C and Hoffman-Zacharska, Dorota and Korff, Christian M and Weber, Yvonne G and Steinlin, Maja and Gallati, Sabina and Bertsche, Astrid and Bernhard, Matthias K and Merkenschlager, Andreas and Kiess, Wieland and Gonzalez, Michael and Züchner, Stephan and Palotie, Aarno and Suls, Arvid and De Jonghe, Peter and Helbig, Ingo and Biskup, Saskia and Wolff, Markus and Maljevic, Snezana and Schüle, Rebecca and Sisodiya, Sanjay M and Weckhuysen, Sarah and Lerche, Holger and Lemke, Johannes R and EuroEPINOMICS RES Consortium and EuroEPINOMICS RES consortium and EuroEPINOMICS RES
Nature Genetics, ISSN 1061-4036, 04/2015, Volume 47, Issue 4, pp. 393 - 399
Epileptic encephalopathies are a phenotypically and genetically heterogeneous group of severe epilepsies accompanied by intellectual disability and other... 
KCNQ2 MUTATIONS | KV1.2 | MYOCLONIC EPILEPSY | GENETICS & HEREDITY | VOLTAGE SENSOR | MYOKYMIA | ION CHANNELS | ATAXIA | POTASSIUM CHANNEL GENE | K+ CHANNEL | PROTEINS | Amino Acid Sequence | Genetic Predisposition to Disease | Humans | Child, Preschool | Infant | Male | Spasms, Infantile - genetics | Young Adult | Kv1.2 Potassium Channel - genetics | Pedigree | Adult | Epilepsy - genetics | Female | Mutation | Child | Cohort Studies | Genotype | Disease susceptibility | Genetic aspects | Identification and classification | Encephalopathy | Risk factors | Medical research | Genotype & phenotype | Handicapped accessibility | Biomedical research | Epilepsy | Ataxia | Growth hormones | Genomes | Patients | DNA repair | Data bases | Index Medicus
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13. Full Text De novo mutations in HCN1 cause early infantile epileptic encephalopathy
by Nava, Caroline and Dalle, Carine and Rastetter, Agnès and Striano, Pasquale and De Kovel, Carolien G F and Nabbout, Rima and Cancès, Claude and Ville, Dorothée and Brilstra, Eva H and Gobbi, Giuseppe and Raffo, Emmanuel and Bouteiller, Delphine and Marie, Yannick and Trouillard, Oriane and Robbiano, Angela and Keren, Boris and Agher, Dahbia and Roze, Emmanuel and Lesage, Suzanne and Nicolas, Aude and Brice, Alexis and Baulac, Michel and Vogt, Cornelia and El Hajj, Nady and Schneider, Eberhard and Suls, Arvid and Weckhuysen, Sarah and Gormley, Padhraig and Lehesjoki, Anna-Elina and De Jonghe, Peter and Helbig, Ingo and Baulac, Stéphanie and Zara, Federico and Koeleman, Bobby P C and Haaf, Thomas and Leguern, Eric and Depienne, Christel and EuroEPINOMICS RES Consortiumm and EuroEPINOMICS RES Consortium
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 6, pp. 640 - 645
Hyperpolarization-activated, cyclic nucleotide gated (HCN) channels contribute to cationic current in neurons and regulate the excitability of neuronal... 
HIPPOCAMPUS | IDIOPATHIC GENERALIZED EPILEPSY | GENETICS & HEREDITY | NEURONS | CATION CURRENT | ACTIVATED PACEMAKER CHANNELS | COPY NUMBER VARIANTS | EXPRESSION | EPILEPTOGENESIS | MICE LACKING | ABSENCE EPILEPSY | Amino Acid Sequence | Cricetinae | Cricetulus | Humans | Child, Preschool | Molecular Sequence Data | Infant | Male | Aicardi Syndrome - genetics | Mutation, Missense | Spasms, Infantile - genetics | Sequence Analysis, DNA | Potassium Channels - genetics | Sequence Homology, Amino Acid | Point Mutation | Patch-Clamp Techniques | Animals | DNA Mutational Analysis | Pedigree | Female | Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels - genetics | CHO Cells | Cohort Studies | Gene mutations | Genetic susceptibility | Exome sequencing | Ohtahara syndrome | Genetic research | Genetic aspects | Research | Identification and classification | Methods | Studies | Disability | Autism | Epilepsy | Parkinsons disease | Amino acids | Mutation | Index Medicus | Pediatrics | Neurons and Cognition | Neurobiology | Aicardi Syndrome | Life Sciences | Genetics | Potassium Channels | Human health and pathology | Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels | Spasms, Infantile | Human genetics
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14. Full Text Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
by Devinsky, Orrin and Rapaport, Mark H and Castellotti, Barbara and Kluger, Gerhard and McQuillin, Andrew and Rees, Mark I and Mountier, Emily and Zsurka, Gabor and Stipa, Carlotta and Bauer, Jurgen and Salpietro, Vincenzo and Krause, Roland and French, Jacqueline A and Guerrini, Renzo and Kousiappa, Ioanna and Palotie, Aarno and Cotsapas, Chris and Manna, Lorella and Cossette, Patrick and Tinuper, Paolo and Bennett, Caitlin A and Hakonarson, Hakon and Inoue, Yushi and Muhle, Hiltrud and Piras, Federica and Lander, Eric S and Stanley, Kate E and Blatt, Ilan and Freyer, Catharine and Bromet, Evelyn J and Byrnes, Andrea and Braatz, Vera and van Baalen, Andreas and Suzuki, Toshimitsu and Pato, Michele T and Kurlemann, Gerhard and Franceschetti, Silvana and Piras, Fabrizio and Hegde, Manu and Todaro, Marian and Dennig, Dieter and Knake, Susanne and Privitera, Michael and Madia, Francesca and Mo, Kelly and Iacomino, Michele and Tanteles, George A and Gabriel, Stacey B and Rosenow, Felix and Ugur-Iseri, Sibel and Chung, Seo-Kyung and Schneider, Natascha and Delanty, Norman and Churchhouse, Claire and Shilling, Hannah and Rademacher, Annika and Helbig, Katherine L and Buono, Russell J and Bisulli, Francesca and Arslan, Mutluay and Schreiber, Herbert and Yamakawa, Kazuhiro and Berkovic, Samuel F and Sterbova, Katalin and Lal, Dennis and King, Chontelle and Canavati, Christina and Lui, Colin H.T and Sadoway, Tara R and Wolking, Stefan and Sham, Pak C and Hausler, Martin and Andrade, Danielle M and Sills, Graeme J and Borggrafe, Ingo and Baykan, Betul and Leu, Costin and Dlugos, Dennis J and Krestel, Heinz and Krey, Ilona and Schulze-Bonhage, Andreas and Kesim, Yesim and Baum, Larry W and Stamberger, Hannah and Gallati, Sabina and Pato, Carlos N and Mancardi, Maria Margherita and Cherny, Stacey S and McCarroll, Steven A and Pendziwiat, Manuela and Marini, Carla and Granata, Tiziana and Gili, Tommaso and Madeleyn, Rene and Weckhuysen, Dorien and Hengsbach, Christian and Regan, Brigid M and Elger, Christian E and Lemke, Johannes R and Kuzniecky, Ruben I and ... and Epi25 Collaborative and Epi25 Collaborative. Electronic address: s.berkovic@unimelb.edu.au
American journal of human genetics, ISSN 0002-9297, 07/2019, Volume 105, Issue 2, p. 267
Sequencing-based studies have identified novel risk genes associated with severe epilepsies and revealed an excess of rare deleterious variation in less-severe... 
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15. Full Text 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
by Schmitz, Bettina and Zimprich, Fritz and Nothnagel, Michael and de Haan, Gerrit-Jan and Mefford, Heather C and Weber, Yvonne and Hjalgrim, Helle and Rosenow, Felix and Baker, Carl and Franke, Andre and Wittig, Michael and Steinich, Ines and Lerche, Holger and Eichler, Evan E and Urak, Lydia and Kleefuß-Lie, Ailing A and Romano, Corrado and de Kovel, Carolien and Fichera, Marco and Gaus, Verena and Sharp, Andrew J and Schreiber, Stefan and Malafosse, Alain and Helbig, Ingo and Thomas, Pierre and Muhle, Hiltrud and Klein, Karl M and Genton, Pierre and Guipponi, Michel and Fuchs, Karoline and Sander, Thomas and Visscher, Frank and Elger, Christian E and Koeleman, Bobby P C and Møller, Rikke S and Nürnberg, Peter and Kron, Katherine L and Leu, Costin and Feucht, Martha and Reif, Philipp S and Stephani, Ulrich and Lindhout, Dick and von Spiczak, Sarah and Luciano, Daniela
Nature Genetics, ISSN 1061-4036, 02/2009, Volume 41, Issue 2, pp. 160 - 162
We identified 15q13.3 microdeletions encompassing the CHRNA7 gene in 12 of 1,223 individuals with idiopathic generalized epilepsy (IGE), which were not... 
SCHIZOPHRENIA | SEIZURES | GENETICS & HEREDITY | Chromosome Deletion | Epilepsy, Generalized - genetics | Genetic Predisposition to Disease | Humans | Risk Factors | Child, Preschool | Male | Case-Control Studies | Young Adult | Comparative Genomic Hybridization | Chromosomes, Human, Pair 15 | Adolescent | Adult | Female | Child | Receptors, Nicotinic - genetics | alpha7 Nicotinic Acetylcholine Receptor | Gene mutations | Epilepsy |