Winkelmann, 101 Gerald Wirnsberger, 11 Ale Algra, 17, 102 Francesco Cucca, 46, 103 Adamo Pio d’Adamo, 45 John Danesh, 104 Ian J. Whitfield, 48 Gonneke Willemsen, 30 Bernhard R. Starr, 37, 99 Jonathan Stephens, 5, 6, 8 Patrick Sulem, 29 Toshiko Tanaka, 66 Unnur Thorsteinsdottir, 29, 100 Vinicius Tragante, 16 Wiek H. Ring, 91 Antonietta Robino, 45 Daniela Ruggiero, 19 Aimo Ruokonen, 92 Aude Saint-Pierre, 15 Cinzia Sala, 50 Andres Salumets, 93, 94 Jennifer Sambrook, 5, 6, 8 Hein Schepers, 95, 96 Carsten Oliver Schmidt, 97 Herman H. Penninx, 83, 84, 85 Lucia Perseu, 46 Antonio Piga, 86 Giorgio Pistis, 50 Anneli Pouta, 87, 88 Ursula Puc, 11 Olli Raitakari, 89, 90 Susan M.

Onundarson, 80, 81 Debora Parracciani, 82 Brenda W. Moffatt, 9 Matthias Nauck, 78 Maria Novatchkova, 11 Teresa Nutile, 19 Isleifur Olafsson, 79 Pall T.

Medland, 48 Christa Meisinger, 76 Yasin Memari, 10, 77 Evelin Mihailov, 19 Kathy Miller, 4 Miriam F. Loos, 35 Stuart Meacham, 5, 6, 8, 10 Sarah E. Kemp, 26 Liming Liang, 75 Heather Lloyd-Jones, 5, 6, 8 Ruth J. Hastie, 43 Bo Hedblad, 40 Thomas Illig, 70, 71 Jennifer Jolley, 5, 6, 8 Mika Kähönen, 72, 73 Ido P. Harris, 37, 68 Anna-Liisa Hartikainen, 69 Claire E. Gibson, 44, 67 Giorgia Girotto, 45 Daniel Fannar Gudbjartsson, 29 Sarah E. Garner, 5, 6, 8 Bernd Genser, 31 Quince D. Domingues, 15 Angela Döring, 64 Gunnar Engström, 40 Gudmundur Ingi Eyjolfsson, 65 Luigi Ferrucci, 66 Krista Fischer, 24 Renzo Galanello, 20 Stephen F. de Moor, 30 Maria Dimitriou, 63 Francisco S. Tang, 48 Alexander Teumer, 49 Michela Traglia, 50 Sheila Ulivi, 51 Harm-Jan Westra, 2 Jian Yang, 52 Jing Hua Zhao, 35 Franco Anni, 20 Abdel Abdellaoui, 30 Antony Attwood, 5, 6, 8, 10 Beverley Balkau, 53, 54 Stefania Bandinelli, 55 François Bastardot, 56, 57 Beben Benyamin, 48, 58 Bernhard O. O’Reilly, 3 Sandosh Padmanabhan, 43 Afshin Parsa, 44 Nicola Pirastu, 45 Eleonora Porcu, 46 Laura Portas, 41 Inga Prokopenko, 33, 34 Janina S. Lopez, 36, 37 Leo-Pekka Lyytikäinen, 38, 39 Olle Melander, 40 Federico Murgia, 41 Ilja M. Kleber, 31, 32 Vasiliki Lagou, 33, 34 Claudia Langenberg, 35 Lorna M. Evans, 26 Lude Franke, 2 Martin Gögele, 15 Jaana Hartiala, 12 Micha Hersch, 27, 28 Hilma Holm, 29 Jouke-Jan Hottenga, 30 Stavroula Kanoni, 10 Marcus E. Asselbergs, 16, 17, 18 Marina Ciullo, 19 Fabrice Danjou, 20 Christian Dina, 21, 22, 23 Tõnu Esko, 24, 25 David M. Albers, 5, 6, 10 Abtehale Al-Hussani, 3 Folkert W.

Paul, 10, * Ulrich Elling, 11, * Hooman Allayee, 12 Xinzhong Li, 13, 14 Aparna Radhakrishnan, 5, 6, 8, 10 Sian-Tsung Tan, 4, 9 Katrin Voss, 5, 6, 8 Christian X. This study shows that the genetic model used affects the outcome of linkage analysis.Pim van der Harst, 1, 2, * Weihua Zhang, 3, 4, * Irene Mateo Leach, 1, * Augusto Rendon, 5, 6, 7, 8, * Niek Verweij, 1, * Joban Sehmi, 4, 9, * Dirk S. Moreover, the high penetrance allowed the identification of genetic heterogeneity.Ĭonclusions: Our data confirm the relevance of the chromosome 16 locus in BFIS and suggest the presence of an additional locus. Evidence of linkage was obtained only for chromosome 16.

One patient without BFIS had a single febrile seizure, and another had rare episodes of paroxysmal dystonia. Results: Clinical information was available for 124 members of affected families. Genetic heterogeneity was evaluated with both models. Chromosome 16p and 19q loci were examined by linkage analysis using two models that differed in penetrance rate. Families with SCN2A or ATP1A2 mutations were excluded from the study. Clinical information about relatives was collected. Probands underwent neurologic examination, at least one EEG recording, and, when possible, brain CT and MRI. We have examined the heterogeneous genetics of BFIS by means of linkage analysis. Infantile seizures also were in a family with familial hemiplegic migraine and mutations in the ATP1A2 gene. The identification of SCN2A mutations in families with only infantile seizures indicated that BFNIS and BFIS may show overlapping clinical features. BFIS loci were identified on chromosomes 19q12-13.1 and 16p12-q12, allelic to infantile convulsions and choreathetosis. Summary: Purpose: Benign familial infantile seizures (BFIS) is a genetically heterogeneous condition characterized by partial seizures, onset age from 3 to 9 months, and favorable outcome.

Renzo traverso