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Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
74 auth.
J. Lemke,
Dennis Lal,
E. Reinthaler,
I. Steiner,
M. Nothnagel,
M. Alber,
Kirsten Geider,
B. Laube,
M. Schwake,
Katrin Finsterwalder,
A. Franke,
M. Schilhabel,
J. Jähn,
H. Muhle,
R. Boor,
...
W. Paesschen,
R. Caraballo,
N. Fejerman,
S. Weckhuysen,
P. Jonghe,
J. Larsen,
R. Møller,
H. Hjalgrim,
L. Addis,
Sha Tang,
E. Hughes,
D. Pal,
K. Veri,
U. Vaher,
T. Talvik,
P. Dimova,
Rosa Guerrero López,
J. Serratosa,
T. Linnankivi,
A. Lehesjoki,
S. Ruf,
M. Wolff,
S. Buerki,
G. Wohlrab,
J. Kroell,
A. Datta,
B. Fiedler,
G. Kurlemann,
G. Kluger,
A. Hahn,
D. E. Haberlandt,
C. Kutzer,
J. Sperner,
F. Becker,
Y. Weber,
M. Feucht,
Hannelore Steinböck,
Birgit Neophythou,
G. Ronen,
U. Gruber‐Sedlmayr,
J. Geldner,
R. Harvey,
P. Hoffmann,
Per Hoffmann,
S. Herms,
S. Herms,
J. Altmüller,
M. Toliat,
H. Thiele,
P. Nürnberg,
C. Wilhelm,
U. Stephani,
I. Helbig,
H. Lerche,
F. Zimprich,
B. Neubauer,
S. Biskup,
S. Biskup,
S. Spiczak
|
8 |
2013 |
8
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SRPX2 mutations in disorders of language cortex and cognition.
30 auth.
P. Roll,
G. Rudolf,
S. Pereira,
Barbara Royer,
I. Scheffer,
A. Massacrier,
M. Valenti,
Nathalie Roeckel-Trévisiol,
Sarah Jamali,
C. Beclin,
C. Seegmuller,
M. Metz-Lutz,
A. Lemainque,
M. Delepine,
C. Caloustian,
...
A. De Saint Martin,
N. Bruneau,
D. Depétris,
M. Mattei,
E. Flori,
A. Robaglia-Schlupp,
N. Lévy,
B. Neubauer,
R. Ravid,
C. Marescaux,
S. Berkovic,
E. Hirsch,
M. Lathrop,
P. Cau,
P. Szepetowski
|
8 |
2006 |
8
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De novo variants in neurodevelopmental disorders with epilepsy
52 auth.
H. Heyne,
T. Singh,
Hannah Stamberger,
R. Abou Jamra,
H. Caglayan,
D. Craiu,
P. de Jonghe,
R. Guerrini,
K. Helbig,
B. Koeleman,
J. Kosmicki,
T. Linnankivi,
P. May,
H. Muhle,
R. Møller,
...
B. Neubauer,
A. Palotie,
Manuela Pendziwiat,
P. Striano,
Shan Tang,
Sitao Wu,
Z. Afawi,
C. D. de Kovel,
P. Dimova,
T. Djémié,
M. Endzinienė,
D. Hoffman-Zacharska,
J. Jähn,
Christian Korff,
A. Lehesjoki,
C. Marini,
Stefanie H. Müller,
D. Pal,
N. Schwarz,
K. Selmer,
J. Serratosa,
U. Stephani,
K. Štěrbová,
A. Suls,
S. Syrbe,
I. Talvik,
Shan Tang,
S. von Spiczak,
F. Zara,
A. Poduri,
Y. Weber,
S. Weckhuysen,
S. Sisodiya,
M. Daly,
I. Helbig,
Dennis Lal,
J. Lemke
|
7 |
2018 |
7
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Centrotemporal spikes in families with rolandic epilepsy
16 auth.
B. Neubauer,
B. Fiedler,
B. Himmelein,
F. Kampfer,
U. Lässker,
G. Schwabe,
I. Spanier,
D. Tams,
C. Bretscher,
K. Moldenhauer,
...
G. Kurlemann,
S. Weise,
K. Tedroff,
O. Eeg‐Olofsson,
C. Wadelius,
U. Stephani
|
7 |
1998 |
7
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CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly.
21 auth.
M. Hussain,
S. Baig,
Sascha Neumann,
V. Peche,
Sandra Szczepanski,
G. Nürnberg,
M. Tariq,
M. Jameel,
T. Khan,
A. Fatima,
...
N. A. Malik,
Ilyas Ahmad,
J. Altmüller,
P. Frommolt,
H. Thiele,
W. Höhne,
G. Yigit,
B. Wollnik,
B. Neubauer,
P. Nürnberg,
A. Noegel
|
6 |
2013 |
6
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|
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DEPDC5 mutations in genetic focal epilepsies of childhood
24 auth.
Dennis Lal,
E. Reinthaler,
J. Schubert,
H. Muhle,
E. Riesch,
G. Kluger,
K. Jabbari,
A. Kawalia,
Christine Bäumel,
H. Holthausen,
...
A. Hahn,
M. Feucht,
B. Neophytou,
E. Haberlandt,
F. Becker,
J. Altmüller,
H. Thiele,
J. Lemke,
H. Lerche,
P. Nürnberg,
T. Sander,
Y. Weber,
F. Zimprich,
B. Neubauer
|
6 |
2014 |
6
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|
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Delineating the GRIN1 phenotypic spectrum
58 auth.
J. Lemke,
Kirsten Geider,
K. Helbig,
H. Heyne,
Hannah Schütz,
J. Hentschel,
C. Courage,
C. Depienne,
C. Nava,
D. Heron,
R. Møller,
H. Hjalgrim,
Dennis Lal,
B. Neubauer,
P. Nürnberg,
...
H. Thiele,
G. Kurlemann,
G. Arnold,
V. Bhambhani,
D. Bartholdi,
C. R. Pedurupillay,
D. Misceo,
E. Frengen,
P. Strømme,
D. Dlugos,
Emily S. Doherty,
E. Bijlsma,
C. Ruivenkamp,
M. Hoffer,
A. Goldstein,
Deepa S Rajan,
V. Narayanan,
K. Ramsey,
N. Belnap,
I. Schrauwen,
R. Richholt,
B. Koeleman,
J. Sá,
C. Mendonca,
C. D. de Kovel,
S. Weckhuysen,
K. Hardies,
P. de Jonghe,
L. de Meirleir,
M. Milh,
C. Badens,
M. Lebrun,
T. Busa,
C. Francannet,
A. Piton,
E. Riesch,
S. Biskup,
H. Vogt,
T. Dorn,
I. Helbig,
J. Michaud,
B. Laube,
S. Syrbe
|
6 |
2016 |
6
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Costs of epilepsy and cost‐driving factors in children, adolescents, and their caregivers in Germany
16 auth.
Janna Riechmann,
A. Strzelczyk,
J. Reese,
R. Boor,
U. Stephani,
Cornelia Langner,
B. Neubauer,
Bettina Oberman,
H. Philippi,
M. Rochel,
...
J. Seeger,
Peter Seipelt,
W. Oertel,
R. Dodel,
F. Rosenow,
H. Hamer
|
6 |
2015 |
6
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KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes
13 auth.
B. Neubauer,
S. Waldegger,
J. Heinzinger,
A. Hahn,
G. Kurlemann,
B. Fiedler,
F. Eberhard,
H. Muhle,
U. Stephani,
S. Garkisch,
...
O. Eeg‐Olofsson,
U. Müller,
T. Sander
|
6 |
2008 |
6
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RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy
13 auth.
Dennis Lal,
E. Reinthaler,
J. Altmüller,
M. Toliat,
H. Thiele,
P. Nürnberg,
H. Lerche,
A. Hahn,
R. Møller,
H. Muhle,
...
T. Sander,
F. Zimprich,
B. Neubauer
|
6 |
2013 |
6
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