Search

Author/Creator Berkovic, Samuel F.

91. Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA. Issue 7 (17th June 2019)

Authors:
Lee, Wei Shern; Stephenson, Sarah E. M.; Howell, Katherine B.; Pope, Kate; Gillies, Greta; Wray, Alison; Maixner, Wirginia; Mandelstam, Simone A.; Berkovic, Samuel F.; Scheffer, Ingrid E.; MacGregor, Duncan; Harvey, Anthony Simon; Lockhart, Paul J.; Leventer, Richard J.
Journal:
Annals of clinical and translational neurology
Issue:
Volume 6:Issue 7(2019)
Page Start:
1338
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

96. Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome. (June 2018)

Authors:
Hildebrand, Michael S.; Harvey, A. Simon; Malone, Stephen; Damiano, John A.; Do, Hongdo; Ye, Zimeng; McQuillan, Lara; Maixner, Wirginia; Kalnins, Renate; Nolan, Bernadette; Wood, Martin; Ozturk, Ezgi; Jones, Nigel C.; Gillies, Greta; Pope, Kate; Lockhart, Paul J.; Dobrovic, Alexander; Leventer, R...
Journal:
Neurology
Issue:
Volume 4:Number 3(2018)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

97. Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes. (6th December 2022)

Authors:
Ye, Zimeng; Bennett, Mark F.; Neal, Andrew; Laing, Joshua A.; Hunn, Martin K.; Wittayacharoenpong, Thanomporn; Todaro, Marian; Patel, Sheila K.; Bahlo, Melanie; Kwan, Patrick; O'Brien, Terence J.; Scheffer, Ingrid E.; Berkovic, Samuel F.; Perucca, Piero; Hildebrand, Michael S.
Journal:
Neurology
Issue:
Volume 99:Number 23(2022)
Page Start:
1036
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

98. Splice variant in ARX leading to loss of C‐terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy. Issue 8 (30th May 2019)

Authors:
Shoubridge, Cheryl; Jackson, Matilda; Grinton, Bronwyn; Berkovic, Samuel F.; Scheffer, Ingrid E.; Huskins, Shannon; Thomas, Alison; Ware, Tyson
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 8(2019)
Page Start:
1483
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

99. SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy. (8th January 2019)

Authors:
Vlaskamp, Danique R.M.; Shaw, Benjamin J.; Burgess, Rosemary; Mei, Davide; Montomoli, Martino; Xie, Han; Myers, Candace T.; Bennett, Mark F.; XiangWei, Wenshu; Williams, Danielle; Maas, Saskia M.; Brooks, Alice S.; Mancini, Grazia M.S.; van de Laar, Ingrid M.B.H.; van Hagen, Johanna M.; Ware, Tys...
Journal:
Neurology
Issue:
Volume 92:Number 2(2019)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

100. TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features. (5th July 2016)

Authors:
Balestrini, Simona; Milh, Mathieu; Castiglioni, Claudia; Lüthy, Kevin; Finelli, Mattea J.; Verstreken, Patrik; Cardon, Aaron; Stražišar, Barbara Gnidovec; Holder, J. Lloyd; Lesca, Gaetan; Mancardi, Maria M.; Poulat, Anne L.; Repetto, Gabriela M.; Banka, Siddharth; Bilo, Leonilda; Birkeland, Laura...
Journal:
Neurology
Issue:
Volume 87:Number 1(2016)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗