1. 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 View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Epileptic spasms are a feature of DEPDC5 mTORopathy. (August 2015) Authors: Carvill, Gemma L.; Crompton, Douglas E.; Regan, Brigid M.; McMahon, Jacinta M.; Saykally, Julia; Zemel, Matthew; Schneider, Amy L.; Dibbens, Leanne; Howell, Katherine B.; Mandelstam, Simone; Leventer, Richard J.; Harvey, A. Simon; Mullen, Saul A.; Berkovic, Samuel F.; Sullivan, Joseph; Scheffer, ... Journal: Neurology Issue: Volume 1:Number 2(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5. (12th March 2015) Authors: Scerri, Thomas; Riseley, Jessica R.; Gillies, Greta; Pope, Kate; Burgess, Rosemary; Mandelstam, Simone A.; Dibbens, Leanne; Chow, Chung W.; Maixner, Wirginia; Harvey, Anthony Simon; Jackson, Graeme D.; Amor, David J.; Delatycki, Martin B.; Crino, Peter B.; Berkovic, Samuel F.; Scheffer, Ingrid E.... Journal: Annals of clinical and translational neurology Issue: Volume 2:Number 5(2015:May) Page Start: 575 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. SCARB2/LIMP2 deficiency in action myoclonus‐renal failure syndrome. (September 2016) Authors: Dibbens, Leanne; Schwake, Michael; Saftig, Paul; Rubboli, Guido Journal: Epileptic disorders Issue: Volume 18(2016:Sep.)Supplement 2 Page Start: S63 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗