Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Jackson A, Blakes AJM, Alhaddad B, Henry OJ, Delgado-Vega AM, Wall E, Abdelhadi O, Agrawal S, Bakur K, Blair E, Brady AF, Brittain H, Chandler KE, Clarke N, Danelli M, Drinkall N, Duba I, Elmslie F, Ellingford J, Ewans LJ, Fennell AP, Gazdagh G, Heller SP, Hammarsjö A, Karrman K, Kini U, Lesko N, Lindstrand A, Macintosh R, Mansour S, Menzies L, Metcalfe K, Milhench A, Nashef L, O'Keefe RT, Pacheco NP, Palmer EE, Parida A, Prescott K, Redman M, Renieri A, Fallerini C, Rizzo CL, Sachdev R, Simons C, Sisodiya SM, Stewart H, Stödberg T, Banos-Pinero B, Taylan F, Thomas HB, Tinella F, Wiafe S, Wedell A, Whiffin N, Walker S, Rius R, Chae JH, Nordgren A, Alkuraya F, Lord J, Banka S.

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DOI: 10.1038/s41588-026-02551-9
Published: 2026-03-30
Container: Nat Genet
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1038/s41588-026-02551-9,
  title = {Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.},
  author = {Jackson A and  Blakes AJM and  Alhaddad B and  Henry OJ and  Delgado-Vega AM and  Wall E and  Abdelhadi O and  Agrawal S and  Bakur K and  Blair E and  Brady AF and  Brittain H and  Chandler KE and  Clarke N and  Danelli M and  Drinkall N and  Duba I and  Elmslie F and  Ellingford J and  Ewans LJ and  Fennell AP and  Gazdagh G and  Heller SP and  Hammarsjö A and  Karrman K and  Kini U and  Lesko N and  Lindstrand A and  Macintosh R and  Mansour S and  Menzies L and  Metcalfe K and  Milhench A and  Nashef L and  O'Keefe RT and  Pacheco NP and  Palmer EE and  Parida A and  Prescott K and  Redman M and  Renieri A and  Fallerini C and  Rizzo CL and  Sachdev R and  Simons C and  Sisodiya SM and  Stewart H and  Stödberg T and  Banos-Pinero B and  Taylan F and  Thomas HB and  Tinella F and  Wiafe S and  Wedell A and  Whiffin N and  Walker S and  Rius R and  Chae JH and  Nordgren A and  Alkuraya F and  Lord J and  Banka S.},
  year = {2026},
  journal = {Nat Genet},
  doi = {10.1038/s41588-026-02551-9},
  url = {https://doi.org/10.1038/s41588-026-02551-9}
}

RIS

TY  - JOUR
TI  - Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.
AU  - Jackson A
AU  -  Blakes AJM
AU  -  Alhaddad B
AU  -  Henry OJ
AU  -  Delgado-Vega AM
AU  -  Wall E
AU  -  Abdelhadi O
AU  -  Agrawal S
AU  -  Bakur K
AU  -  Blair E
AU  -  Brady AF
AU  -  Brittain H
AU  -  Chandler KE
AU  -  Clarke N
AU  -  Danelli M
AU  -  Drinkall N
AU  -  Duba I
AU  -  Elmslie F
AU  -  Ellingford J
AU  -  Ewans LJ
AU  -  Fennell AP
AU  -  Gazdagh G
AU  -  Heller SP
AU  -  Hammarsjö A
AU  -  Karrman K
AU  -  Kini U
AU  -  Lesko N
AU  -  Lindstrand A
AU  -  Macintosh R
AU  -  Mansour S
AU  -  Menzies L
AU  -  Metcalfe K
AU  -  Milhench A
AU  -  Nashef L
AU  -  O'Keefe RT
AU  -  Pacheco NP
AU  -  Palmer EE
AU  -  Parida A
AU  -  Prescott K
AU  -  Redman M
AU  -  Renieri A
AU  -  Fallerini C
AU  -  Rizzo CL
AU  -  Sachdev R
AU  -  Simons C
AU  -  Sisodiya SM
AU  -  Stewart H
AU  -  Stödberg T
AU  -  Banos-Pinero B
AU  -  Taylan F
AU  -  Thomas HB
AU  -  Tinella F
AU  -  Wiafe S
AU  -  Wedell A
AU  -  Whiffin N
AU  -  Walker S
AU  -  Rius R
AU  -  Chae JH
AU  -  Nordgren A
AU  -  Alkuraya F
AU  -  Lord J
AU  -  Banka S.
PY  - 2026
JO  - Nat Genet
DO  - 10.1038/s41588-026-02551-9
UR  - https://doi.org/10.1038/s41588-026-02551-9
ER  -

APA

A, J., AJM, B., B, A., OJ, H., AM, D., E, W., O, A., S, A., K, B., E, B., AF, B., H, B., KE, C., N, C., M, D., N, D., I, D., F, E., J, E., LJ, E., AP, F., G, G., SP, H., A, H., K, K., U, K., N, L., A, L., R, M., S, M., L, M., K, M., A, M., L, N., RT, O., NP, P., EE, P., A, P., K, P., M, R., A, R., C, F., CL, R., R, S., C, S., SM, S., H, S., T, S., B, B., F, T., HB, T., F, T., S, W., A, W., N, W., S, W., R, R., JH, C., A, N., F, A., J, L., & S., B. (2026). Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.. Nat Genet. https://doi.org/10.1038/s41588-026-02551-9

Source records

europe-pmc · retrieved 2026-09-26T18:50:13.782Z