Page 107 - ASHG 2012 Annual Meeting Program Guide

96
INVITED AND PLATFORM SESSIONS
Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.
Thursday, November 8
4:30
PM
–6:45
PM
Concurrent Platform (abstract-driven)
Session C (38-46)
SESSION 41 – Genes Underlying Neurological Disease
Room 134, Lower Level North, Moscone Center
Moderators
:
Stylianos Antonarakis, Univ. of Geneva
Med. Sch.; Laurie Ozelius, Mount Sinai Med. Sch.
196
/4:30
TMTC4
:
A novel candidate gene for
callosal development.
L. Fernandez, J. Li, M.
Wakahiro, E. Rider, T. Bartman, E. Sherr.
197
/4:45
CLK2
missense mutation in a family with
pontocerebellar hypoplasia type 7.
V. R. C. Eggens,
Y. Namavar, M. A. Haagmans, K. Fluiter, E. J. Bradley,
P. G. Barth, B. T. Poll-The, F. Baas.
198
/5:00
Missense mutations in
ITPR1
cause
autosomal dominant congenital nonprogressive
spinocerebellar ataxia.
J. Warman Chardon, L.
Huang, M. Carter, K. Friend, T. Dudding, J.
Schwartzentruber, R. Zou, P. Schofield, S. Douglas,
D. Bulman, K. Boycott.
199
/5:15
VPS37A
causes a novel form of complex
hereditary spastic paraparesis.
T. Falik-Zaccai, Y.
Zivony-Elboum, W. Westbroek, D. Savitzki, Y. Shoval,
Y. Anikster, A. Waters, R. Kleta.
200
/5:30
Genome-wide association study identifies
two novel susceptibility loci for musician’s
dystonia.
K. Lohmann, A. Schmidt, A. Schillert, S.
Winkler, K. Siegesmund, H.-C. Jabusch, M. Kasten,
J. L. Groen, C. Hemmelmann, J. Hagenah, J. Graf,
N. Brüggemann, A. Grünewald, F. Baas, A. Münchau,
K. E. Zeuner, S. Schreiber, G. Deuschl, M. A. J. de
Koning-Tijssen, E. Altenmüller, A. Ziegler, C. Klein.
201
/5:45
Autosomal recessive axonal neuropathy
with neuromyotonia: A novel disease entity
caused by mutations in
HINT1
.
J. Baets, M. Zimon,
L. Almeida-Souza, J. Nikodinovic, Y. Parman, E.
Battaloglu, V. Guergueltcheva, I. Tournev, M. Auer-
Grumbach, T. Müller, P. Van Damme, W. N. Löscher,
N. Barisic, Z. Mitrovic, S. C. Previtali, H. Topaloglu,
G. Bernert, A. Beleza-Meireles, S. Todorovic,
B. Ishpekova, K. Peeters, A. F. Hahn, S. Züchner,
V. Timmerman, V. Milic Rasic, A. R. Janecke,
A. Jordanova, P. De Jonghe.
202
/6:00
De novo gain of function
KCNT1
channel
mutations cause seizures and developmental delay
in malignant migrating partial seizures of infancy.
G. Barcia, M. R. Fleming, A. Deligniere, V. Gazula,
M. R. Brown, M. Langouet, H. Chen, J. Kronengold,
A. Abhyankar, R. Cilio, P. Nitschke, A. Kaminska, N.
Boddaert, J. L. Casanova, I. Desguerre, A. Munnich,
O. Dulac, L. K. Kaczmarek, L. Colleaux, R. Nabbout.
203
/6:15
Investigating the genetic etiology of
familial epilepsies using next-generation
sequencing.
E. K. Ruzzo, E. L. Heinzen, R. Wedel,
K. V. Shianna, I. E. Scheffer, S. F. Berkovic, R. Ottman,
D. B. Goldstein.
204
/6:30
Autoregulation of the DYT6-gene
THAP1
.
A. Erogullari, P. Seibler, D. Braunholz, A. Grünewald,
R. Depping, J. Eckhold, A. Rakovic, T. Lohnau, G.
Gillessen-Kaesbach, C. Klein, K. Lohmann, F. J. Kaiser.