De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.

Chiara Klöckner; Heinrich Sticht; Pia Zacher; Bernt Popp; Holly E Babcock; Dewi P Bakker; Katy Barwick; Michaela V Bonfert; Carsten G Bönnemann; Eva H Brilstra; Wendy K Chung; Angus J Clarke; Patrick Devine; Sandra Donkervoort; Jamie L Fraser; Jennifer Friedman; Alyssa Gates; Jamal Ghoumid; Emma Hobson; Gabriella Horvath; Jennifer Keller-Ramey; Boris Keren; Manju A Kurian; Virgina Lee; Kathleen A Leppig; Johan Lundgren; Marie T McDonald; Heather M McLaughlin; Amy McTague; Heather C Mefford; Cyril Mignot; Mohamad A Mikati; Caroline Nava; F Lucy Raymond; Julian R Sampson; Alba Sanchis-Juan; Vandana Shashi; Joseph T C Shieh; Marwan Shinawi; Anne Slavotinek; Tommy Stödberg; Nicholas Stong; Jennifer A Sullivan; Ashley C Taylor; Tomi L Toler; Marie-José van den Boogaard; Saskia N van der Crabben; Koen L I van Gassen; Richard H van Jaarsveld; Jessica Van Ziffle; Alexandrea F Wadley; Matias Wagner; Kristen Wigby; Saskia Wortmann; Yuri A Zarate; Rikke S Møller; Johannes R Lemke; Konrad Platzer

doi:10.1038/s41436-020-01020-w

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.

Chiara Klöckner
, Heinrich Sticht
, Pia Zacher
, Bernt Popp
, Holly E Babcock
, Dewi P Bakker
, Katy Barwick
, Michaela V Bonfert
, Carsten G Bönnemann
, Eva H Brilstra
, Wendy K Chung
, Angus J Clarke
, Patrick Devine
, Sandra Donkervoort
, Jamie L Fraser
, Jennifer Friedman
, Alyssa Gates
, Jamal Ghoumid
, Emma Hobson
, Gabriella Horvath

Jennifer Keller-Ramey, Boris Keren, Manju A Kurian, Virgina Lee, Kathleen A Leppig, Johan Lundgren, Marie T McDonald, Heather M McLaughlin, Amy McTague, Heather C Mefford, Cyril Mignot, Mohamad A Mikati, Caroline Nava, F Lucy Raymond, Julian R Sampson, Alba Sanchis-Juan, Vandana Shashi, Joseph T C Shieh, Marwan Shinawi, Anne Slavotinek, Tommy Stödberg, Nicholas Stong, Jennifer A Sullivan, Ashley C Taylor, Tomi L Toler, Marie-José van den Boogaard, Saskia N van der Crabben, Koen L I van Gassen, Richard H van Jaarsveld, Jessica Van Ziffle, Alexandrea F Wadley, Matias Wagner, Kristen Wigby, Saskia Wortmann (Co-author), Yuri A Zarate, Rikke S Møller, Johannes R Lemke, Konrad Platzer

Department of Pediatrics

Research output: Contribution to journal › Original Article › peer-review

33 Citations (Web of Science)

Original language	English
Pages (from-to)	653-660
Journal	GENETICS IN MEDICINE
Volume	23
Issue number	4
DOIs	https://doi.org/10.1038/s41436-020-01020-w
Publication status	Published - 2021

Keywords

MUTATIONS
PROTEIN

Access to Document

10.1038/s41436-020-01020-w

Cite this

Klöckner, C., Sticht, H., Zacher, P., Popp, B., Babcock, H. E., Bakker, D. P., Barwick, K., Bonfert, M. V., Bönnemann, C. G., Brilstra, E. H., Chung, W. K., Clarke, A. J., Devine, P., Donkervoort, S., Fraser, J. L., Friedman, J., Gates, A., Ghoumid, J., Hobson, E., ... Platzer, K. (2021). De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. GENETICS IN MEDICINE , 23(4), 653-660. https://doi.org/10.1038/s41436-020-01020-w

Klöckner, Chiara ; Sticht, Heinrich ; Zacher, Pia et al. / De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. In: GENETICS IN MEDICINE 2021 ; Vol. 23, No. 4. pp. 653-660.

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title = "De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.",

keywords = "MUTATIONS, PROTEIN",

author = "Chiara Kl{\"o}ckner and Heinrich Sticht and Pia Zacher and Bernt Popp and Babcock, \{Holly E\} and Bakker, \{Dewi P\} and Katy Barwick and Bonfert, \{Michaela V\} and B{\"o}nnemann, \{Carsten G\} and Brilstra, \{Eva H\} and Chung, \{Wendy K\} and Clarke, \{Angus J\} and Patrick Devine and Sandra Donkervoort and Fraser, \{Jamie L\} and Jennifer Friedman and Alyssa Gates and Jamal Ghoumid and Emma Hobson and Gabriella Horvath and Jennifer Keller-Ramey and Boris Keren and Kurian, \{Manju A\} and Virgina Lee and Leppig, \{Kathleen A\} and Johan Lundgren and McDonald, \{Marie T\} and McLaughlin, \{Heather M\} and Amy McTague and Mefford, \{Heather C\} and Cyril Mignot and Mikati, \{Mohamad A\} and Caroline Nava and Raymond, \{F Lucy\} and Sampson, \{Julian R\} and Alba Sanchis-Juan and Vandana Shashi and Shieh, \{Joseph T C\} and Marwan Shinawi and Anne Slavotinek and Tommy St{\"o}dberg and Nicholas Stong and Sullivan, \{Jennifer A\} and Taylor, \{Ashley C\} and Toler, \{Tomi L\} and \{van den Boogaard\}, Marie-Jos{\'e} and \{van der Crabben\}, \{Saskia N\} and \{van Gassen\}, \{Koen L I\} and \{van Jaarsveld\}, \{Richard H\} and \{Van Ziffle\}, Jessica and Wadley, \{Alexandrea F\} and Matias Wagner and Kristen Wigby and Saskia Wortmann and Zarate, \{Yuri A\} and M{\o}ller, \{Rikke S\} and Lemke, \{Johannes R\} and Konrad Platzer",

note = "Wortmann: University Childrens Hospital, Paracelsus Medical University, Salzburg, Austria",

year = "2021",

doi = "10.1038/s41436-020-01020-w",

language = "English",

volume = "23",

pages = "653--660",

journal = "GENETICS IN MEDICINE ",

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Klöckner, C, Sticht, H, Zacher, P, Popp, B, Babcock, HE, Bakker, DP, Barwick, K, Bonfert, MV, Bönnemann, CG, Brilstra, EH, Chung, WK, Clarke, AJ, Devine, P, Donkervoort, S, Fraser, JL, Friedman, J, Gates, A, Ghoumid, J, Hobson, E, Horvath, G, Keller-Ramey, J, Keren, B, Kurian, MA, Lee, V, Leppig, KA, Lundgren, J, McDonald, MT, McLaughlin, HM, McTague, A, Mefford, HC, Mignot, C, Mikati, MA, Nava, C, Raymond, FL, Sampson, JR, Sanchis-Juan, A, Shashi, V, Shieh, JTC, Shinawi, M, Slavotinek, A, Stödberg, T, Stong, N, Sullivan, JA, Taylor, AC, Toler, TL, van den Boogaard, M-J, van der Crabben, SN, van Gassen, KLI, van Jaarsveld, RH, Van Ziffle, J, Wadley, AF, Wagner, M, Wigby, K, Wortmann, S, Zarate, YA, Møller, RS, Lemke, JR & Platzer, K 2021, 'De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.', GENETICS IN MEDICINE , vol. 23, no. 4, pp. 653-660. https://doi.org/10.1038/s41436-020-01020-w

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. / Klöckner, Chiara; Sticht, Heinrich; Zacher, Pia et al.
In: GENETICS IN MEDICINE , Vol. 23, No. 4, 2021, p. 653-660.

Research output: Contribution to journal › Original Article › peer-review

TY - JOUR

T1 - De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.

AU - Klöckner, Chiara

AU - Sticht, Heinrich

AU - Zacher, Pia

AU - Popp, Bernt

AU - Babcock, Holly E

AU - Bakker, Dewi P

AU - Barwick, Katy

AU - Bonfert, Michaela V

AU - Bönnemann, Carsten G

AU - Brilstra, Eva H

AU - Chung, Wendy K

AU - Clarke, Angus J

AU - Devine, Patrick

AU - Donkervoort, Sandra

AU - Fraser, Jamie L

AU - Friedman, Jennifer

AU - Gates, Alyssa

AU - Ghoumid, Jamal

AU - Hobson, Emma

AU - Horvath, Gabriella

AU - Keller-Ramey, Jennifer

AU - Keren, Boris

AU - Kurian, Manju A

AU - Lee, Virgina

AU - Leppig, Kathleen A

AU - Lundgren, Johan

AU - McDonald, Marie T

AU - McLaughlin, Heather M

AU - McTague, Amy

AU - Mefford, Heather C

AU - Mignot, Cyril

AU - Mikati, Mohamad A

AU - Nava, Caroline

AU - Raymond, F Lucy

AU - Sampson, Julian R

AU - Sanchis-Juan, Alba

AU - Shashi, Vandana

AU - Shieh, Joseph T C

AU - Shinawi, Marwan

AU - Slavotinek, Anne

AU - Stödberg, Tommy

AU - Stong, Nicholas

AU - Sullivan, Jennifer A

AU - Taylor, Ashley C

AU - Toler, Tomi L

AU - van den Boogaard, Marie-José

AU - van der Crabben, Saskia N

AU - van Gassen, Koen L I

AU - van Jaarsveld, Richard H

AU - Van Ziffle, Jessica

AU - Wadley, Alexandrea F

AU - Wagner, Matias

AU - Wigby, Kristen

AU - Wortmann, Saskia

AU - Zarate, Yuri A

AU - Møller, Rikke S

AU - Lemke, Johannes R

AU - Platzer, Konrad

N1 - Wortmann: University Childrens Hospital, Paracelsus Medical University, Salzburg, Austria

PY - 2021

Y1 - 2021

KW - MUTATIONS

KW - PROTEIN

U2 - 10.1038/s41436-020-01020-w

DO - 10.1038/s41436-020-01020-w

M3 - Original Article

C2 - 33299146

SN - 1098-3600

VL - 23

SP - 653

EP - 660

JO - GENETICS IN MEDICINE

JF - GENETICS IN MEDICINE

IS - 4

ER -

Klöckner C, Sticht H, Zacher P, Popp B, Babcock HE, Bakker DP et al. De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. GENETICS IN MEDICINE . 2021;23(4):653-660. doi: 10.1038/s41436-020-01020-w