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Author/Creator Berkovic, Samuel F

1. A variant of KCC2 from patients with febrile seizures impairs neuronal Cl− extrusion and dendritic spine formation. (25th March 2014)

Authors:
Puskarjov, Martin; Seja, Patricia; Heron, Sarah E; Williams, Tristiana C; Ahmad, Faraz; Iona, Xenia; Oliver, Karen L; Grinton, Bronwyn E; Vutskits, Laszlo; Scheffer, Ingrid E; Petrou, Steven; Blaesse, Peter; Dibbens, Leanne M; Berkovic, Samuel F; Kaila, Kai
Journal:
EMBO reports
Issue:
Volume 15:Number 6(2014:Jun.)
Page Start:
723
Record Type:
Journal Article
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2. Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline. (25th October 2013)

Authors:
Kim, Young Ok; Bellows, Susannah; McMahon, Jacinta M; Iona, Xenia; Damiano, John; Dibbens, Leanne; Kelley, Kent; Gill, Deepak; Cross, J Helen; Berkovic, Samuel F; Scheffer, Ingrid E
Journal:
Developmental medicine & child neurology
Issue:
Volume 56:Number 1(2014:Jan.)
Page Start:
85
Record Type:
Journal Article
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3. Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain. Issue 1 (28th January 2021)

Authors:
Ye, Zimeng; Chatterton, Zac; Pflueger, Jahnvi; Damiano, John A; McQuillan, Lara; Harvey, A Simon; Malone, Stephen; Do, Hongdo; Maixner, Wirginia; Schneider, Amy; Nolan, Bernadette; Wood, Martin; Lee, Wei Shern; Gillies, Greta; Pope, Kate; Wilson, Michael; Lockhart, Paul J; Dobrovic, Alexander; Sc...
Journal:
Brain communications
Issue:
Volume 3:Issue 1(2021)
Page Start:
Record Type:
Journal Article
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4. Cerebrospinal fluid neurofilament light chain differentiates behavioural variant frontotemporal dementia progressors from 'phenocopy' non‐progressors. (20th December 2022)

Authors:
Keem, Michael H; Eratne, Dhamidhu; Lewis, Courtney; Kang, Matthew; Walterfang, Mark; Loi, Samantha M; Kelso, Wendy; Cadwallader, Claire; Berkovic, Samuel F; Li, Qiao‐Xin; Masters, Colin L.; Collins, Steven; Santillo, Alexander; Velakoulis, Dennis
Journal:
Alzheimer's & dementia
Issue:
Volume 18(2022)Supplement 5
Page Start:
n/a
Record Type:
Journal Article
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5. Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis. Issue 1 (January 2019)

Authors:
Mole, Sara E; Anderson, Glenn; Band, Heather A; Berkovic, Samuel F; Cooper, Jonathan D; Kleine Holthaus, Sophia-Martha; McKay, Tristan R; Medina, Diego L; Rahim, Ahad A; Schulz, Angela; Smith, Alexander J
Journal:
Lancet neurology
Issue:
Volume 18:Issue 1(2019)
Page Start:
107
Record Type:
Journal Article
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7. De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin. Issue 2 (8th July 2009)

Authors:
Heron, Sarah E; Scheffer, Ingrid E; Iona, Xenia; Zuberi, Sameer M; Birch, Rachael; McMahon, Jacinta M; Bruce, Carla M; Berkovic, Samuel F; Mulley, John C
Journal:
Journal of medical genetics
Issue:
Volume 47:Issue 2(2010)
Page Start:
137
Record Type:
Journal Article
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8. Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. Issue 3 (14th September 2009)

Authors:
Hynes, Kim; Tarpey, Patrick; Dibbens, Leanne M; Bayly, Marta A; Berkovic, Samuel F; Smith, Raffaella; Raisi, Zahyia Al; Turner, Samantha J; Brown, Natasha J; Desai, Tarishi D; Haan, Eric; Turner, Gillian; Christodoulou, John; Leonard, Helen; Gill, Deepak; Stratton, Michael R; Gecz, Jozef; Scheffe...
Journal:
Journal of medical genetics
Issue:
Volume 47:Issue 3(2010)
Page Start:
211
Record Type:
Journal Article
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