E-LIB Suche - Ergebnisse für: McMahon, Jacinta M.

1

The severe epilepsy syndromes of infancy: A population‐base..:

Howell, Katherine B. ; Freeman, Jeremy L. ; Mackay, Mark T....
Epilepsia. 62 (2021) 2 - p. 358-370 , 2021

Link: https://doi.org/10.1111/..

2

A population‐based cost‐effectiveness study of early geneti..:

Howell, Katherine B. ; Eggers, Stefanie ; Dalziel, Kim...
Epilepsia. 59 (2018) 6 - p. 1177-1187 , 2018

Link: https://doi.org/10.1111/..

3

Sleep problems in Dravet syndrome: a modifiable comorbidity:

Licheni, Shane H ; Mcmahon, Jacinta M ; Schneider, Amy L..
Developmental Medicine & Child Neurology. 60 (2017) 2 - p. 192-198 , 2017

Link: https://doi.org/10.1111/..

4

Severe infantile onset developmental and epileptic encephal..:

Carvill, Gemma L. ; Liu, Aijie ; Mandelstam, Simone...
Epilepsia. 59 (2017) 1 - p. e5-e13 , 2017

Link: https://doi.org/10.1111/..

5

ADGRV1 is implicated in myoclonic epilepsy:

Myers, Kenneth A. ; Nasioulas, Steven ; Boys, Amber...
Epilepsia. 59 (2017) 2 - p. 381-388 , 2017

Link: https://doi.org/10.1111/..

6

Pitfalls in genetic testing: the story of missed SCN1A muta..:

Djémié, Tania ; Weckhuysen, Sarah ; von Spiczak, Sarah...
Molecular Genetics & Genomic Medicine. 4 (2016) 4 - p. 457-464 , 2016

Link: https://doi.org/10.1002/..

7

Mortality in Dravet syndrome:

Cooper, Monica S. ; Mcintosh, Anne ; Crompton, Douglas E....
Epilepsy Research. 128 (2016) - p. 43-47 , 2016

Link: https://doi.org/10.1016/..

8

The phenotypic spectrum ofSCN8Aencephalopathy:

Larsen, Jan ; Carvill, Gemma L. ; Gardella, Elena...
Neurology. 84 (2015) 5 - p. 480-489 , 2015

Link: https://doi.org/10.1212/..

9

Favourable response to ketogenic dietary therapies: undiagn..:

Schoeler, Natasha E ; Cross, Judith Helen ; Drury, Suzanne...
Developmental Medicine & Child Neurology. 57 (2015) 10 - p. 969-976 , 2015

Link: https://doi.org/10.1111/..

10

Variants in KCNJ11 and BAD do not predict response to ketog..:

Schoeler, Natasha E. ; Leu, Costin ; White, Jon...
Epilepsy Research. 118 (2015) - p. 22-28 , 2015

Link: https://doi.org/10.1016/..

11

Mutations inKCNT1cause a spectrum of focal epilepsies:

Møller, Rikke S. ; Heron, Sarah E. ; Larsen, Line H. G....
Epilepsia. 56 (2015) 9 - p. e114-e120 , 2015

Link: https://doi.org/10.1111/..

12

Genome-wide Polygenic Burden of Rare Deleterious Variants i..:

Leu, Costin ; Balestrini, Simona ; Maher, Bridget...
EBioMedicine. 2 (2015) 9 - p. 1063-1070 , 2015

Link: https://doi.org/10.1016/..

13

SCN2Aencephalopathy: A major cause of epilepsy of infancy w..:

Howell, Katherine B. ; McMahon, Jacinta M. ; Carvill, Gemma L....
Neurology. 85 (2015) 11 - p. 958-966 , 2015

Link: https://doi.org/10.1212/..

14

Loss of synaptic Zn2+ transporter function increases risk o..:

Hildebrand, Michael S. ; Phillips, A. Marie ; Mullen, Saul A....
Scientific Reports. 5 (2015) 1 - p. , 2015

Link: https://doi.org/10.1038/..

15

GABRA1andSTXBP1: Novel genetic causes of Dravet syndrome:

Carvill, Gemma L. ; Weckhuysen, Sarah ; McMahon, Jacinta M....
Neurology. 82 (2014) 14 - p. 1245-1253 , 2014

Link: https://doi.org/10.1212/..