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Exome‐based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy
16 auth.
R. Bagnall,
D. Crompton,
S. Petrovski,
L. Lam,
Carina Cutmore,
Sarah I Garry,
L. Sadleir,
L. Dibbens,
A. Cairns,
S. Kivity,
...
Z. Afawi,
Brigid M. Regan,
Johan Duflou,
S. Berkovic,
I. Scheffer,
C. Semsarian
|
7 |
2016 |
7
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|
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Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype
38 auth.
F. Jaffer,
A. Avbersek,
R. Vavassori,
C. Fons,
J. Campistol,
M. Stagnaro,
Elisa De Grandis,
E. Veneselli,
H. Rosewich,
Melania Gianotta,
C. Zucca,
F. Ragona,
T. Granata,
N. Nardocci,
M. Mikati,
...
A. Helseth,
C. Boelman,
B. Minassian,
Sophia Johns,
Sarah I Garry,
I. Scheffer,
I. Gourfinkel‐An,
I. Carrilho,
S. Aylett,
M. Parton,
M. Hanna,
H. Houlden,
B. Neville,
M. Kurian,
J. Novy,
Josemir W Sander,
P. Lambiase,
E. Behr,
Tsveta Schyns,
A. Arzimanoglou,
J. Cross,
J. Kaski,
S. Sisodiya
|
5 |
2015 |
5
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|
|
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Phenotypic analysis of 303 multiplex families with common epilepsies
67 auth.
B. Abou-Khalil,
Z. Afawi,
A. Allen,
J. Bautista,
S. Bellows,
S. Berkovic,
J. Bluvstein,
R. Burgess,
G. Cascino,
EJ Cops,
P. Cossette,
S. Cristofaro,
D. Crompton,
N. Delanty,
O. Devinsky,
...
D. Dlugos,
M. Epstein,
N. Fountain,
C. Freyer,
Sarah I Garry,
E. Geller,
T. Glauser,
Simon Glynn,
H. Goldberg-Stern,
D. Goldstein,
Micheline Gravel,
K. Haas,
S. Haut,
E. Heinzen,
H. Kirsch,
S. Kivity,
R. Knowlton,
A. Korczyn,
E. Kossoff,
R. Kuzniecky,
R. Loeb,
D. Lowenstein,
A. Marson,
M. McCormack,
K. McKenna,
H. Mefford,
P. Motika,
S. Mullen,
T. O’Brien,
R. Ottman,
J. Paolicchi,
J. Parent,
Sarah J. Paterson,
S. Petrovski,
W. O. Pickrell,
A. Poduri,
M. Rees,
L. Sadleir,
I. Scheffer,
J. Shih,
Rinki Singh,
J. Sirven,
Michael C. Smith,
P. Smith,
L. Thio,
R. Thomas,
Anu Venkat,
E. Vining,
Allmen G Von,
J. Weisenberg,
P. Widdess-Walsh,
Winawer
|
4 |
2017 |
4
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|
|
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EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities.
13 auth.
M. Shaw,
A. Winczewska-Wiktor,
M. Badura-Stronka,
Sunita Koirala,
A. Gardner,
Łukasz Kuszel,
P. Kowal,
B. Steinborn,
Monika Starczewska,
Sarah I Garry,
...
I. Scheffer,
S. Berkovic,
J. Gécz
|
3 |
2020 |
3
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