Fingerprint Dive into the research topics where IRS - The Epilepsyhospital Filadelfia is active. These topic labels come from the works of this organisation's members. Together they form a unique fingerprint.

Mutation Medicine & Life Sciences
Electroencephalography Medicine & Life Sciences
Temporal Lobe Epilepsy Medicine & Life Sciences
Exome Medicine & Life Sciences
Rolandic Epilepsy Medicine & Life Sciences
Sudden Death Medicine & Life Sciences
Malformations of Cortical Development Medicine & Life Sciences
Genetic Association Studies Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 2000 2019

A commentary on Encephalopathy related to Status Epilepticus during slow Sleep: from concepts to terminology

Tassinari, C. A. & Rubboli, G., Jun 2019, In : Epileptic disorders : international epilepsy journal with videotape. 21, S1, p. 13-14

Research output: Contribution to journalJournal articleResearchpeer-review

A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family

Sher, M., Farooq, M., Abdullah, U., Ali, Z., Faryal, S., Zakaria, M., Ullah, F., Bukhari, H., Møller, R. S., Tommerup, N. & Baig, S. M., 2. Sep 2019, In : International Journal of Neuroscience. 129, 9, p. 890-895

Research output: Contribution to journalJournal articleResearchpeer-review

Neuronal Ceroid-Lipofuscinoses
Mutation
Proteins
Amino Acids
Live Birth

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

the EuroEPINOMICS-RES Consortium & the GRIN Consortium, 6. Jun 2019, In : American Journal of Human Genetics. 104, 6, p. 1060-1072

Research output: Contribution to journalJournal articleResearchpeer-review

Clathrin
Endocytosis
Exome
Entropy
Membranes
45 Downloads (Pure)

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

C4RCD Research Group & AR working group of the EuroEPINOMICS RES Consortium, 12. Feb 2019, In : Nature Communications. 10, 15 p., 708.

Research output: Contribution to journalJournal articleResearchpeer-review

Open Access
File
Valine-tRNA Ligase
Amino Acyl-tRNA Synthetases
Microcephaly
Zebrafish
mutations

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

Stülpnagel, C. V., Hartlieb, T., Borggräfe, I., Coppola, A., Gennaro, E., Eschermann, K., Kiwull, L., Kluger, F., Krois, I., Møller, R. S., Rössler, F., Santulli, L., Schwermer, C., Wallacher-Scholz, B., Zara, F., Wolf, P. & Kluger, G., Feb 2019, In : Seizure. 65, p. 131-137

Research output: Contribution to journalReviewResearchpeer-review

Reflex Epilepsy
Mastication
Pediatrics
Mutation
Eyelids

Activities 2018 2019

  • 6 Conference presentations
  • 2 Organisation or participation in workshops, courses or seminars
  • 2 Guest lectures, external teaching and course activities at other universities
  • 2 Talks and presentations in private or public companies

Supervision - Roles and Relations

Rikke Steensbjerre Møller (Participant)
26. Feb 2019

Activity: Attending an eventOrganisation or participation in workshops, courses or seminars

IRS Strategiseminar for forskningsledere

Rikke Steensbjerre Møller (Participant)
4. Feb 20195. Feb 2019

Activity: Attending an eventOrganisation or participation in workshops, courses or seminars

Hope for new treatment of severe epilepsy

Rikke Steensbjerre Møller (Lecturer)
17. Dec 2018

Activity: Talks and presentationsTalks and presentations in private or public companies

Epilepsy Genetics in the Era of Precision Medicine: Implications for Testing and Targeted Treatment

Rikke Steensbjerre Møller (Lecturer)
20. Nov 2018

Activity: Talks and presentationsGuest lectures, external teaching and course activities at other universities

Hope for new treatment of severe epilepsy

Rikke Steensbjerre Møller (Lecturer)
8. Nov 2018

Activity: Talks and presentationsConference presentations