|
🐜
|
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
34 auth.
G. Carvill,
S. Heavin,
S. Yendle,
J. Mcmahon,
B. O’Roak,
Joseph Cook,
Adiba Khan,
M. Dorschner,
M. Weaver,
S. Calvert,
Stephen Malone,
G. Wallace,
Thorsten Stanley,
A. Bye,
A. Bleasel,
...
K. Howell,
S. Kivity,
M. Mackay,
V. Rodriguez-Casero,
R. Webster,
A. Korczyn,
Z. Afawi,
N. Zelnick,
T. Lerman-Sagie,
D. Lev,
R. Møller,
D. Gill,
D. Andrade,
J. Freeman,
L. Sadleir,
J. Shendure,
S. Berkovic,
I. Scheffer,
H. Mefford
|
9 |
2013 |
9
🐜
|
|
🐜
|
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood
79 auth.
E. Heinzen,
K. Swoboda,
Y. Hitomi,
F. Gurrieri,
S. Nicole,
B. de Vries,
F. Tiziano,
B. Fontaine,
N. Walley,
S. Heavin,
E. Panagiotakaki,
S. Fiori,
E. Abiusi,
Lorena Di Pietro,
Matthew T. Sweney,
...
T. Newcomb,
L. Viollet,
C. Huff,
L. Jorde,
S. Reyna,
Kelley J. Murphy,
K. Shianna,
C. Gumbs,
L. Little,
K. Silver,
L. Ptáček,
J. Haan,
M. Ferrari,
A. Bye,
G. Herkes,
Charlotte M. Whitelaw,
D. Webb,
B. Lynch,
P. Uldall,
M. King,
I. Scheffer,
G. Neri,
A. Arzimanoglou,
A. M. van den Maagdenberg,
S. Sisodiya,
M. Mikati,
D. Goldstein,
Stephany C. Koelewijn,
J. Kamphorst,
M. Geilenkirchen,
N. Pelzer,
L. Laan,
M. Ferrari,
A. M. van den Maagdenberg,
C. Zucca,
M. Bassi,
F. Franchini,
R. Vavassori,
M. Giannotta,
G. Gobbi,
T. Granata,
N. Nardocci,
Elisa De Grandis,
E. Veneselli,
M. Stagnaro,
F. Vigevano,
Claudia Oechsler,
M. Ninan,
B. Neville,
F. Ebinger,
C. Fons,
J. Campistol,
D. Kemlink,
S. Nevšímalová,
L. Laan,
C. Peeters-Scholte,
P. Casaer,
G. Casari,
G. Sange,
G. Spiel,
F. Boneschi,
Tsveta Schyns,
F. Crawley,
D. Poncelin
|
8 |
2012 |
8
🐜
|
|
🐜
|
Early and effective treatment of KCNQ2 encephalopathy
13 auth.
T. Pisano,
Adam L. Numis,
S. Heavin,
S. Weckhuysen,
M. Angriman,
A. Suls,
Barbara Podestà,
Ronald L Thibert,
K. Shapiro,
R. Guerrini,
...
I. Scheffer,
C. Marini,
M. Cilio
|
7 |
2015 |
7
🐜
|
|
🐜
|
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis
32 auth.
H. Martin,
Grace E. Kim,
A. Pagnamenta,
Y. Murakami,
G. Carvill,
E. Meyer,
R. Copley,
A. Rimmer,
G. Barcia,
M. Fleming,
J. Kronengold,
Maile R. Brown,
K. Hudspith,
J. Broxholme,
Alexander Kanapin,
...
J. Cazier,
T. Kinoshita,
R. Nabbout,
D. Bentley,
G. McVean,
S. Heavin,
Z. Zaiwalla,
T. McShane,
H. Mefford,
D. Shears,
H. Stewart,
M. Kurian,
I. Scheffer,
E. Blair,
P. Donnelly,
L. Kaczmarek,
Jenny C. Taylor
|
7 |
2014 |
7
🐜
|
|
🐜
|
Extending the KCNQ2 encephalopathy spectrum
32 auth.
S. Weckhuysen,
V. Ivanović,
R. Hendrickx,
R. Van Coster,
H. Hjalgrim,
R. Møller,
S. Grønborg,
A. Schoonjans,
B. Ceulemans,
S. Heavin,
C. Eltze,
R. Horvath,
G. Casara,
T. Pisano,
L. Giordano,
...
K. Rostásy,
E. Haberlandt,
B. Albrecht,
A. Bevot,
I. Benkel,
S. Syrbe,
B. Sheidley,
R. Guerrini,
A. Poduri,
J. Lemke,
S. Mandelstam,
I. Scheffer,
M. Angriman,
P. Striano,
C. Marini,
A. Suls,
P. de Jonghe
|
7 |
2013 |
7
🐜
|
|
🐜
|
CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures
11 auth.
R. Thomas,
Lin Zhang,
G. Carvill,
J. Archer,
S. Heavin,
S. Mandelstam,
...
D. Craiu,
S. Berkovic,
D. Gill,
H. Mefford,
I. Scheffer
|
6 |
2015 |
6
🐜
|
|
🐬
|
Intracellular Accumulation of High Levels of γ-Aminobutyrate by Listeria monocytogenes 10403S in Response to Low pH: Uncoupling of γ-Aminobutyrate Synthesis from Efflux in a Chemically Defined Medium
K. Karatzas,
O. Brennan,
S. Heavin,
J. Morrissey,
C. O’Byrne
|
6 |
2010 |
6
🐬
|
|
🐜
|
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability
27 auth.
K. Benson,
M. White,
N. Allen,
S. Byrne,
R. Carton,
E. Comerford,
D. Costello,
C. Doherty,
B. Dunleavey,
Hany El-Naggar,
N. Gangadharan,
S. Heavin,
H. Kearney,
N. Lench,
J. Lynch,
...
M. McCormack,
M. O. Regan,
K. Podesta,
K. Power,
A. Rogers,
C. Steward,
B. Sweeney,
D. Webb,
M. Fitzsimons,
M. Greally,
N. Delanty,
G. Cavalleri
|
5 |
2020 |
5
🐜
|
|
🦁
|
Genomic and clinical predictors of lacosamide response in refractory epilepsies
29 auth.
S. Heavin,
M. McCormack,
S. Wolking,
Lisa Slattery,
N. Walley,
A. Avbersek,
J. Novy,
S. Sinha,
R. Radtke,
C. Doherty,
P. Auce,
J. Craig,
Michael R. Johnson,
B. Koeleman,
R. Krause,
...
W. Kunz,
A. Marson,
T. O’Brien,
Josemir W Sander,
G. Sills,
H. Stefánsson,
P. Striano,
F. Zara,
C. Depondt,
S. Sisodiya,
D. Goldstein,
H. Lerche,
G. Cavalleri,
N. Delanty
|
3 |
2019 |
3
🦁
|
|
🐜
|
The phenotype of bilateral hippocampal sclerosis and its management in “real life” clinical settings
20 auth.
Arjune Sen,
Patricia Dugan,
P. Perucca,
D. Costello,
Hyunmi Choi,
C. Bazil,
R. Radtke,
D. Andrade,
C. Depondt,
S. Heavin,
...
J. Adcock,
W. O. Pickrell,
R. McGinty,
Fábio A. Nascimento,
P. Smith,
M. I. Rees,
P. Kwan,
Terence J O'Brien,
D. Goldstein,
N. Delanty
|
2 |
2018 |
2
🐜
|
