1. A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family. (2nd September 2019) Authors: Sher, Muhammad; Farooq, Muhammad; Abdullah, Uzma; Ali, Zafar; Faryal, Sanam; Zakaria, Mohammad; Ullah, Farid; Bukhari, Hassan; Møller, Rikke S.; Tommerup, Niels; Baig, Shahid Mahmood Journal: International journal of neuroscience Issue: Volume 129:Number 9(2019) Page Start: 890 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Aberrant expression of miR‐218 and miR‐204 in human mesial temporal lobe epilepsy and hippocampal sclerosis—Convergence on axonal guidance. Issue 12 (19th November 2014) Authors: Kaalund, Sanne S.; Venø, Morten T.; Bak, Mads; Møller, Rikke S.; Laursen, Henning; Madsen, Flemming; Broholm, Helle; Quistorff, Bjørn; Uldall, Peter; Tommerup, Niels; Kauppinen, Sakari; Sabers, Anne; Fluiter, Kees; Møller, Lisbeth B.; Nossent, Anne Y.; Silahtaroglu, Asli; Kjems, Jørgen; Aronica, ... Journal: Epilepsia Issue: Volume 55:Issue 12(2014:Dec.) Page Start: 2017 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Alternating hemiplegia of childhood and a pathogenic variant of ATP1A3: a case report and pathophysiological considerations. Issue 2 (June 2017) Authors: Pavlidis, Elena; Uldall, Peter; Gøbel Madsen, Camilla; Nikanorova, Marina; Fabricius, Martin; Høgenhaven, Hans; Pisani, Francesco; Møller, Rikke S.; Gardella, Elena; Rubboli, Guido Journal: Epileptic disorders Issue: Volume 19:Issue 2(2017) Page Start: 226 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Atypical Vitamin B6 Deficiency: A Rare Cause of Unexplained Neonatal and Infantile Epilepsies. (May 2014) Authors: Baumgart, Anna; Spiczak, Sarah von; Verhoeven-Duif, Nanda M.; Møller, Rikke S.; Boor, Rainer; Muhle, Hiltrud; Jähn, Johanna A.; Klitten, Laura L.; Hjalgrim, Helle; Lindhout, Dick; Stephani, Ulrich; van Kempen, Marjan J. A.; Helbig, Ingo Journal: Journal of child neurology Issue: Volume 29:Number 5(2014:May) Page Start: 704 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. Issue 3 (13th February 2016) Authors: Gardella, Elena; Becker, Felicitas; Møller, Rikke S.; Schubert, Julian; Lemke, Johannes R.; Larsen, Line H. G.; Eiberg, Hans; Nothnagel, Michael; Thiele, Holger; Altmüller, Janine; Syrbe, Steffen; Merkenschlager, Andreas; Bast, Thomas; Steinhoff, Bernhard; Nürnberg, Peter; Mang, Yuan; Bakke Mølle... Journal: Annals of neurology Issue: Volume 79:Issue 3(2016:Mar.) Page Start: 428 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Biallelic inherited SCN8A variants, a rare cause of SCN8A‐related developmental and epileptic encephalopathy. (17th October 2019) Authors: Wengert, Eric R.; Tronhjem, Cathrine E.; Wagnon, Jacy L.; Johannesen, Katrine M.; Petit, Hayley; Krey, Ilona; Saga, Anusha U.; Panchal, Payal S.; Strohm, Samantha M.; Lange, Jörn; Kamphausen, Susanne B.; Rubboli, Guido; Lemke, Johannes R.; Gardella, Elena; Patel, Manoj K.; Meisler, Miriam H.; Møl... Journal: Epilepsia Issue: Volume 60:issue 11(2019) Page Start: 2277 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder. Issue 2 (8th June 2022) Authors: Christensen, Maria B.; Levy, Amanda M.; Mohammadi, Nazanin A.; Niceta, Marcello; Kaiyrzhanov, Rauan; Dentici, Maria Lisa; Al Alam, Chadi; Alesi, Viola; Benoit, Valérie; Bhatia, Kailash P.; Bierhals, Tatjana; Boßelmann, Christian M.; Buratti, Julien; Callewaert, Bert; Ceulemans, Berten; Charles, P... Journal: Clinical genetics Issue: Volume 102:Issue 2(2022) Page Start: 98 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. (23rd February 2020) Authors: Brunklaus, Andreas; Du, Juanjiangmeng; Steckler, Felix; Ghanty, Ismael I.; Johannesen, Katrine M.; Fenger, Christina Dühring; Schorge, Stephanie; Baez‐Nieto, David; Wang, Hao‐Ran; Allen, Andrew; Pan, Jen Q.; Lerche, Holger; Heyne, Henrike; Symonds, Joseph D.; Zuberi, Sameer M.; Sanders, Stephan; ... Journal: Epilepsia Issue: Volume 61:issue 3(2020) Page Start: 387 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Characterization of the GABRB2‐Associated Neurodevelopmental Disorders. Issue 3 (24th December 2020) Authors: el Achkar, Christelle M.; Harrer, Merle; Smith, Lacey; Kelly, McKenna; Iqbal, Sumaiya; Maljevic, Snezana; Niturad, Cristina E.; Vissers, Lisenka E. L. M.; Poduri, Annapurna; Yang, Edward; Lal, Dennis; Lerche, Holger; Møller, Rikke S.; Olson, Heather E. Journal: Annals of neurology Issue: Volume 89:Issue 3(2021) Page Start: 573 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Chewing induced reflex seizures ("eating epilepsy") and eye closure sensitivity as a common feature in pediatric patients with SYNGAP1 mutations: Review of literature and report of 8 cases. (February 2019) Authors: von Stülpnagel, Celina; Hartlieb, Till; Borggräfe, Ingo; Coppola, Antonietta; Gennaro, Elena; Eschermann, Kirsten; Kiwull, Lorenz; Kluger, Felicitas; Krois, Ilona; Møller, Rikke S.; Rössler, Franziska; Santulli, Lia; Schwermer, Constanze; Wallacher-Scholz, Barbara; Zara, Federico; Wolf, Peter; Kl... Journal: Seizure Issue: Volume 65(2019) Page Start: 131 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗