Johannes Koch

Salzburg
Austria

Research activity per year

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47 Original Article
19 Abstract (Journal)
6 Case report
2 Review article
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- 1 Short comment / notes
- 1 Correction

De novo missense variants in BAIAP2 are associated with developmental and epileptic encephalopathies
Zhang, G., Lu, Y., Xie, L., Begemann, A., Papuc, S. M., Zweier, M., Steindl, K., Rauch, A., Mayr, J. A. (Co-author), Koch, J. (Co-author), Feichtinger, R. G. (Co-author), Elmslie, F., Kulosik, L., Jamra, R. A., Harmsen, S., Wang, S., He, M., Zhang, L., Zhou, W. & Wang, C. & 3 others, Liu, X., Zhang, A. & Zheng, B., 24 Oct 2025, In: EPILEPSIA. 19 p.
Research output: Contribution to journal › Original Article › peer-review
Fieberkrämpfe in der Pädiatrie: Management, Diagnostik, Therapie und Prognose
Translated title of the contribution: Febrile seizures in pediatrics: Management, diagnostics, treatment and prognosisSteinbrucker, K. (First author) & Koch, J. (First author), 29 Dec 2025, In: CLINICAL EPILEPTOLOGY . 7 p.
Research output: Contribution to journal › Review article › peer-review

Open Access
Successful use of fenfluramine in drug resistant epileptic encephalopathy with spike-wave activation in sleep (EE-SWAS)- an automated EEG study
Koch, J. (First author), Steinbruecker, K. (Co-author), Kluger, G. (Co-author), Knasmueller, S. & Trinka, E. (Last author), Aug 2025, In: SEIZURE-EUROPEAN JOURNAL OF EPILEPSY. 130, p. 56-58 3 p.
Research output: Contribution to journal › Short comment / notes › peer-review

1 Citation (Web of Science)
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency
Merkevicius, K., Smirnov, D., Schlieben, L. D., Ganetzky, R., Feichtinger, R. G. (Co-author), Jiang, H., Fang, F., Ebihara, T., Murayama, K., Ferrera, G., Ardissone, A., Rokicki, D., Wesol-Kucharska, D., Schröder, S., Bauer, P., Bertoli-Avella, A., Østergaard, E., Freisinger, P., Janssen, M. C. H. & Wagner, M. & 90 others, Abouyousef, O., Alhaddad, B., AlAbdi, L., Alkuraya, F., Alston, C. L., Baghdasaryan, A., Barca, D., Barić, I., Bellusci, M., Bevot, A., Boltshauser, E., Borggraefe, I., Bouchereau, J., Bruno, C., Burnyte, B., Calhoun, A., Casas, K., Coker, M., Crushell, E., De Lonlay, P., Dionisi-Vici, C., Distelmaier, F., Falk, M. J., Ferreira, A. C., Ferreira, C. R., Ficicioglu, C., Fatma Gokçay, G., Häberle, J., Heath, O. (Co-author), Hellenschmidt, A., Hoefele, J., Hoffmann, G. F., Honzik, T., Huemer, M., Janeiro, P., Karaa, A., Seher Kasapkara, Ç., Kern, I., Klepper, J., Klopstock, T., Knerr, I., Koch, J. (Co-author), Krumina, Z., Lamperti, C., Lebigot, E., Liu, Z., Maier, E. M. (Co-author), Martinelli, D., McFarland, R., Mendelsohn, B., Molnar, M. J., Mundy, H., Nassogne, M.-C., Oliveira, A., Õunap, K., Panicucci, C., Parikh, S., Peters, H., Pichard, S., Plecko, B., Ramadža, D. P., Repetto, G. M., Rivera, I., Rodenburg, R. J., Rossi, A., Schiff, M., Seidemann, K., Smith, W. E., Soares, S., Siri, B., Steinbrucker, K. (Co-author), Striano, P., Sykut-Cegielska, J., Tal, G., Taylor, R. W., Tsiakas, K., Kalkan Ucar, S., van Konijnenburg, E. H., Woidy, M., Yaplito-Lee, J., Yildiz, Y., Zenker, M., Zsidegh, P., Westphal, D., Sperl, W. (Co-author), Meitinger, T., Brown, G. K., Prokisch, H., Mayr, J. A. (Last author) & Wortmann, S. B. (Last author), 14 Nov 2025, (E-pub ahead of print) In: BRAIN .
Research output: Contribution to journal › Original Article › peer-review

Open Access
Treatment of a Large Hemorrhagic Midbrain Cavernoma Within the Silvian Aqueduct in a Five-Year-Old Girl-A Case Report
Krause, M. (First author), Michel, A.-J. (Co-author), Koch, J. (Co-author), Gradl, J. (Co-author), Pfaff, J. A. R. (Co-author), Griessenauer, C. J. (Co-author) & Stana-Hackenberg, L. (Last author), 26 Apr 2025, In: CHILDREN-BASEL. 12, 5, 5 p., 564.
Research output: Contribution to journal › Case report › peer-review

Open Access

Investigation of disorders in the pathway of ADP ribosylation in pediatric patients
Mayr, J. A. (PI), Koch, J. (Further contributor) & Feichtinger, R. (Further contributor)
1/09/19 → 1/11/20
Project: Research
BAIAP2 mutations - a novel genetic cause of epileptic encephalopathy
Mayr, J. A. (PI) & Koch, J. (CoPI)
1/12/18 → 1/12/19
Project: Research

Johannes Koch

Fingerprint

Research output

De novo missense variants in BAIAP2 are associated with developmental and epileptic encephalopathies

Fieberkrämpfe in der Pädiatrie: Management, Diagnostik, Therapie und Prognose

Successful use of fenfluramine in drug resistant epileptic encephalopathy with spike-wave activation in sleep (EE-SWAS)- an automated EEG study

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency

Treatment of a Large Hemorrhagic Midbrain Cavernoma Within the Silvian Aqueduct in a Five-Year-Old Girl-A Case Report

Projects

Investigation of disorders in the pathway of ADP ribosylation in pediatric patients

BAIAP2 mutations - a novel genetic cause of epileptic encephalopathy