1. Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease). (9th August 2016) Authors: Berkovic, Samuel F.; Staropoli, John F.; Carpenter, Stirling; Oliver, Karen L.; Kmoch, Stanislav; Anderson, Glenn W.; Damiano, John A.; Hildebrand, Michael S.; Sims, Katherine B.; Cotman, Susan L.; Bahlo, Melanie; Smith, Katherine R.; Cadieux-Dion, Maxime; Cossette, Patrick; Jedličková, Ivana; Př... Journal: Neurology Issue: Volume 87:Number 6(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Evidence of linkage to chromosome 5p13.2‐q11.1 in a large inbred family with genetic generalized epilepsy. (4th July 2018) Authors: Kinay, Demet; Oliver, Karen L.; Tüzün, Erdem; Damiano, John A.; Ulusoy, Canan; Andermann, Eva; Hildebrand, Michael S.; Bahlo, Melanie; Berkovic, Samuel F. Journal: Epilepsia Issue: Volume 59:issue 8(2018) Page Start: e125 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies. (August 2017) Authors: Bennett, Caitlin A.; Petrovski, Slavé; Oliver, Karen L.; Berkovic, Samuel F. Journal: Neurology Issue: Volume 3:Number 4(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Glucose metabolism transporters and epilepsy: Only GLUT1 has an established role. Issue 2 (31st January 2014) Authors: Hildebrand, Michael S.; Damiano, John A.; Mullen, Saul A.; Bellows, Susannah T.; Oliver, Karen L.; Dahl, Hans‐Henrik M.; Scheffer, Ingrid E.; Berkovic, Samuel F. Journal: Epilepsia Issue: Volume 55:Issue 2(2014:Feb.) Page Start: e18 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery. (February 2016) Authors: Oliver, Karen L.; Lukic, Vesna; Freytag, Saskia; Scheffer, Ingrid E.; Berkovic, Samuel F.; Bahlo, Melanie Journal: Neurology Issue: Volume 2:Number 1(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Multiplex families with epilepsy: Success of clinical and molecular genetic characterization. (23rd February 2016) Authors: Afawi, Zaid; Oliver, Karen L.; Kivity, Sara; Mazarib, Aziz; Blatt, Ilan; Neufeld, Miriam Y.; Helbig, Katherine L.; Goldberg-Stern, Hadassa; Misk, Adel J.; Straussberg, Rachel; Walid, Simri; Mahajnah, Muhammad; Lerman-Sagie, Tally; Ben-Zeev, Bruria; Kahana, Esther; Masalha, Rafik; Kramer, Uri; Eks... Journal: Neurology Issue: Volume 86:Number 8(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties. Issue 5 (May 2017) Authors: Oliver, Karen L.; Franceschetti, Silvana; Milligan, Carol J.; Muona, Mikko; Mandelstam, Simone A.; Canafoglia, Laura; Boguszewska‐Chachulska, Anna M.; Korczyn, Amos D.; Bisulli, Francesca; Di Bonaventura, Carlo; Ragona, Francesca; Michelucci, Roberto; Ben‐Zeev, Bruria; Straussberg, Rachel; Panzic... Journal: Annals of neurology Issue: Volume 81:Issue 5(2017) Page Start: 677 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy. (4th February 2019) Authors: Schulz, Herbert; Ruppert, Ann‐Kathrin; Zara, Federico; Madia, Francesca; Iacomino, Michele; S. Vari, Maria; Balagura, Ganna; Minetti, Carlo; Striano, Pasquale; Bianchi, Amedeo; Marini, Carla; Guerrini, Renzo; Weber, Yvonne G.; Becker, Felicitas; Lerche, Holger; Kapser, Claudia; Schankin, Christop... Journal: Epilepsia Issue: Volume 60:issue 5(2019) Page Start: e31 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases. (12th December 2021) Authors: Canafoglia, Laura; Franceschetti, Silvana; Gambardella, Antonio; Striano, Pasquale; Giallonardo, Anna Teresa; Tinuper, Paolo; Di Bonaventura, Carlo; Michelucci, Roberto; Ferlazzo, Edoardo; Granata, Tiziana; Magaudda, Adriana; Licchetta, Laura; Filla, Alessandro; La Neve, Angela; Riguzzi, Patrizia... Journal: Neurology Issue: Volume 7:Number 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases. (December 2021) Authors: Canafoglia, Laura; Franceschetti, Silvana; Gambardella, Antonio; Striano, Pasquale; Giallonardo, Anna Teresa; Tinuper, Paolo; Di Bonaventura, Carlo; Michelucci, Roberto; Ferlazzo, Edoardo; Granata, Tiziana; Magaudda, Adriana; Licchetta, Laura; Filla, Alessandro; La Neve, Angela; Riguzzi, Patrizia... Journal: Neurology Issue: Volume 7:Number 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗