Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Leitão E, Santini A, Cogne B, Essid M, Athanasiadou M, LaFlamme CW, Marijon P, Bernard V, Chatron N, Barcia G, Keren B, Mignot C, Charles P, Besnard T, de Sainte Agathe JM, Fuerte EPA, Sengupta S, Milh M, Ramond F, Allan T, An I, Araujo C, Arpin S, Austin-Tse C, Auvin S, Baer S, Bahi-Buisson N, Bak M, Barth M, Baulac S, Weirauch NB, Begemann M, Bennett MF, Bensabath U, Bézieau S, Bhouri R, Biehler M, Hammer TB, Bogoin J, Bonanno E, Boussion S, Bramswig NC, Bris C, Brosseau-Beauvir A, Bruel AL, Buratti J, Chambon P, Chemaly N, Chesneau B, Colin E, Colmard M, Conrad S, Courtin T, Dang LT, de Saint Martin A, de Vanssay de Blavous Legendre C, Denommé-Pichon AS, DiTroia S, Doco-Fenzy M, Dubourg C, Dubucs C, Ducreux S, Dufour L, Duquet R, Durand B, Chehadeh SE, Elbracht M, Faivre L, Faoucher M, Faudet A, Forlani S, Fradin M, Gaignard P, Ganne B, Garde A, Géraud J, Gill D, Goldenberg A, Grabli D, Grisel C, Gueden S, Gueguen P, Guerrot AM, Guichet A, Härting N, Häusler MG, Heide S, Héron B, Héron D, Heulin M, Houdayer C, Isidor B, Jacquette A, Januel L, Jean-Marçais N, Jousselin K, Kaiser FJ, Kaya S, King C, Konyukh M, Kraft F, Krause J, Kirstetter R, Kuechler A, Kurth I, Labalme A, Laloy JS, Laugel V, Bricquir FL, Lèbre AS, Lebrun M, Leguern E, Levy J, Lieffering N, Lyonnet S, Lüthy K, Macdonald S, Mansour-Hendili L, Maraval J, Mattausch C, Messaoud O, Morel G, Mortreux J, Munnich A, Nabbout R, Nambot S, Navarro V, Neale A, Nguyen L, Nizon M, Nowak F, O'Leary MC, Odent S, Ojeda NM, Olin V, Õunap K, Pais LS, Paluch R, Panagiotakaki E, Patat O, Perrin-Sabourin L, Petit F, Philippe C, Piton A, Planes M, Poirsier C, Pouzet A, Prouteau C, Quéméner-Redon S, Renaud M, Richard AC, Rio M, Rivier C, Robin-Renaldo F, Rollier P, Rossi M, Roubertie A, Rupin M, Saugier-Veber P, Saneto R, Sarrazin E, Schaefer E, Schluth-Bolard C, Schneider A, Schumann I, Seplyarskiy V, Smol T, Sunyaev S, Sperelakis-Beedham B, Stenton SL, Stock F, Tharreau M, Torun D, Toulouse J, Thiyagarajah H, Valence S, Valleix S, Villard L, Ville D, Villeneuve N, Vitobello A, Waernessyckle A, Weber Y, Wieczorek D, Witkowski T, Yadavilli M, Yammine T, Zaafrane-Khachnaoui K, Zaki MS, Ziegler A, Lermine A, Nicolas G, Gleeson JG, Sadleir LG, Hildebrand MS, Scheffer IE, Whiffin N, O'Donnell-Luria A, Mefford HC, Blanc P, Thevenon J, Charbonnier C, Charenton C, Depienne C, Lesca G, Nava C

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DOI: 10.1101/2025.09.02.25334923
Published: 2025 Sep 4
Container: medRxiv : the preprint server for health sciences
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Open access: yes

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BibTeX

@article{allodium:10.1101/2025.09.02.25334923,
  title = {Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.},
  author = {Leitão E and Santini A and Cogne B and Essid M and Athanasiadou M and LaFlamme CW and Marijon P and Bernard V and Chatron N and Barcia G and Keren B and Mignot C and Charles P and Besnard T and de Sainte Agathe JM and Fuerte EPA and Sengupta S and Milh M and Ramond F and Allan T and An I and Araujo C and Arpin S and Austin-Tse C and Auvin S and Baer S and Bahi-Buisson N and Bak M and Barth M and Baulac S and Weirauch NB and Begemann M and Bennett MF and Bensabath U and Bézieau S and Bhouri R and Biehler M and Hammer TB and Bogoin J and Bonanno E and Boussion S and Bramswig NC and Bris C and Brosseau-Beauvir A and Bruel AL and Buratti J and Chambon P and Chemaly N and Chesneau B and Colin E and Colmard M and Conrad S and Courtin T and Dang LT and de Saint Martin A and de Vanssay de Blavous Legendre C and Denommé-Pichon AS and DiTroia S and Doco-Fenzy M and Dubourg C and Dubucs C and Ducreux S and Dufour L and Duquet R and Durand B and Chehadeh SE and Elbracht M and Faivre L and Faoucher M and Faudet A and Forlani S and Fradin M and Gaignard P and Ganne B and Garde A and Géraud J and Gill D and Goldenberg A and Grabli D and Grisel C and Gueden S and Gueguen P and Guerrot AM and Guichet A and Härting N and Häusler MG and Heide S and Héron B and Héron D and Heulin M and Houdayer C and Isidor B and Jacquette A and Januel L and Jean-Marçais N and Jousselin K and Kaiser FJ and Kaya S and King C and Konyukh M and Kraft F and Krause J and Kirstetter R and Kuechler A and Kurth I and Labalme A and Laloy JS and Laugel V and Bricquir FL and Lèbre AS and Lebrun M and Leguern E and Levy J and Lieffering N and Lyonnet S and Lüthy K and Macdonald S and Mansour-Hendili L and Maraval J and Mattausch C and Messaoud O and Morel G and Mortreux J and Munnich A and Nabbout R and Nambot S and Navarro V and Neale A and Nguyen L and Nizon M and Nowak F and O'Leary MC and Odent S and Ojeda NM and Olin V and Õunap K and Pais LS and Paluch R and Panagiotakaki E and Patat O and Perrin-Sabourin L and Petit F and Philippe C and Piton A and Planes M and Poirsier C and Pouzet A and Prouteau C and Quéméner-Redon S and Renaud M and Richard AC and Rio M and Rivier C and Robin-Renaldo F and Rollier P and Rossi M and Roubertie A and Rupin M and Saugier-Veber P and Saneto R and Sarrazin E and Schaefer E and Schluth-Bolard C and Schneider A and Schumann I and Seplyarskiy V and Smol T and Sunyaev S and Sperelakis-Beedham B and Stenton SL and Stock F and Tharreau M and Torun D and Toulouse J and Thiyagarajah H and Valence S and Valleix S and Villard L and Ville D and Villeneuve N and Vitobello A and Waernessyckle A and Weber Y and Wieczorek D and Witkowski T and Yadavilli M and Yammine T and Zaafrane-Khachnaoui K and Zaki MS and Ziegler A and Lermine A and Nicolas G and Gleeson JG and Sadleir LG and Hildebrand MS and Scheffer IE and Whiffin N and O'Donnell-Luria A and Mefford HC and Blanc P and Thevenon J and Charbonnier C and Charenton C and Depienne C and Lesca G and Nava C},
  year = {2025},
  journal = {medRxiv : the preprint server for health sciences},
  doi = {10.1101/2025.09.02.25334923},
  url = {https://doi.org/10.1101/2025.09.02.25334923}
}

RIS

TY  - JOUR
TI  - Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
AU  - Leitão E
AU  - Santini A
AU  - Cogne B
AU  - Essid M
AU  - Athanasiadou M
AU  - LaFlamme CW
AU  - Marijon P
AU  - Bernard V
AU  - Chatron N
AU  - Barcia G
AU  - Keren B
AU  - Mignot C
AU  - Charles P
AU  - Besnard T
AU  - de Sainte Agathe JM
AU  - Fuerte EPA
AU  - Sengupta S
AU  - Milh M
AU  - Ramond F
AU  - Allan T
AU  - An I
AU  - Araujo C
AU  - Arpin S
AU  - Austin-Tse C
AU  - Auvin S
AU  - Baer S
AU  - Bahi-Buisson N
AU  - Bak M
AU  - Barth M
AU  - Baulac S
AU  - Weirauch NB
AU  - Begemann M
AU  - Bennett MF
AU  - Bensabath U
AU  - Bézieau S
AU  - Bhouri R
AU  - Biehler M
AU  - Hammer TB
AU  - Bogoin J
AU  - Bonanno E
AU  - Boussion S
AU  - Bramswig NC
AU  - Bris C
AU  - Brosseau-Beauvir A
AU  - Bruel AL
AU  - Buratti J
AU  - Chambon P
AU  - Chemaly N
AU  - Chesneau B
AU  - Colin E
AU  - Colmard M
AU  - Conrad S
AU  - Courtin T
AU  - Dang LT
AU  - de Saint Martin A
AU  - de Vanssay de Blavous Legendre C
AU  - Denommé-Pichon AS
AU  - DiTroia S
AU  - Doco-Fenzy M
AU  - Dubourg C
AU  - Dubucs C
AU  - Ducreux S
AU  - Dufour L
AU  - Duquet R
AU  - Durand B
AU  - Chehadeh SE
AU  - Elbracht M
AU  - Faivre L
AU  - Faoucher M
AU  - Faudet A
AU  - Forlani S
AU  - Fradin M
AU  - Gaignard P
AU  - Ganne B
AU  - Garde A
AU  - Géraud J
AU  - Gill D
AU  - Goldenberg A
AU  - Grabli D
AU  - Grisel C
AU  - Gueden S
AU  - Gueguen P
AU  - Guerrot AM
AU  - Guichet A
AU  - Härting N
AU  - Häusler MG
AU  - Heide S
AU  - Héron B
AU  - Héron D
AU  - Heulin M
AU  - Houdayer C
AU  - Isidor B
AU  - Jacquette A
AU  - Januel L
AU  - Jean-Marçais N
AU  - Jousselin K
AU  - Kaiser FJ
AU  - Kaya S
AU  - King C
AU  - Konyukh M
AU  - Kraft F
AU  - Krause J
AU  - Kirstetter R
AU  - Kuechler A
AU  - Kurth I
AU  - Labalme A
AU  - Laloy JS
AU  - Laugel V
AU  - Bricquir FL
AU  - Lèbre AS
AU  - Lebrun M
AU  - Leguern E
AU  - Levy J
AU  - Lieffering N
AU  - Lyonnet S
AU  - Lüthy K
AU  - Macdonald S
AU  - Mansour-Hendili L
AU  - Maraval J
AU  - Mattausch C
AU  - Messaoud O
AU  - Morel G
AU  - Mortreux J
AU  - Munnich A
AU  - Nabbout R
AU  - Nambot S
AU  - Navarro V
AU  - Neale A
AU  - Nguyen L
AU  - Nizon M
AU  - Nowak F
AU  - O'Leary MC
AU  - Odent S
AU  - Ojeda NM
AU  - Olin V
AU  - Õunap K
AU  - Pais LS
AU  - Paluch R
AU  - Panagiotakaki E
AU  - Patat O
AU  - Perrin-Sabourin L
AU  - Petit F
AU  - Philippe C
AU  - Piton A
AU  - Planes M
AU  - Poirsier C
AU  - Pouzet A
AU  - Prouteau C
AU  - Quéméner-Redon S
AU  - Renaud M
AU  - Richard AC
AU  - Rio M
AU  - Rivier C
AU  - Robin-Renaldo F
AU  - Rollier P
AU  - Rossi M
AU  - Roubertie A
AU  - Rupin M
AU  - Saugier-Veber P
AU  - Saneto R
AU  - Sarrazin E
AU  - Schaefer E
AU  - Schluth-Bolard C
AU  - Schneider A
AU  - Schumann I
AU  - Seplyarskiy V
AU  - Smol T
AU  - Sunyaev S
AU  - Sperelakis-Beedham B
AU  - Stenton SL
AU  - Stock F
AU  - Tharreau M
AU  - Torun D
AU  - Toulouse J
AU  - Thiyagarajah H
AU  - Valence S
AU  - Valleix S
AU  - Villard L
AU  - Ville D
AU  - Villeneuve N
AU  - Vitobello A
AU  - Waernessyckle A
AU  - Weber Y
AU  - Wieczorek D
AU  - Witkowski T
AU  - Yadavilli M
AU  - Yammine T
AU  - Zaafrane-Khachnaoui K
AU  - Zaki MS
AU  - Ziegler A
AU  - Lermine A
AU  - Nicolas G
AU  - Gleeson JG
AU  - Sadleir LG
AU  - Hildebrand MS
AU  - Scheffer IE
AU  - Whiffin N
AU  - O'Donnell-Luria A
AU  - Mefford HC
AU  - Blanc P
AU  - Thevenon J
AU  - Charbonnier C
AU  - Charenton C
AU  - Depienne C
AU  - Lesca G
AU  - Nava C
PY  - 2025
JO  - medRxiv : the preprint server for health sciences
DO  - 10.1101/2025.09.02.25334923
UR  - https://doi.org/10.1101/2025.09.02.25334923
ER  -

APA

E, L., A, S., B, C., M, E., M, A., CW, L., P, M., V, B., N, C., G, B., B, K., C, M., P, C., T, B., JM, D. S. A., EPA, F., S, S., M, M., F, R., T, A., I, A., C, A., S, A., C, A., S, A., S, B., N, B., M, B., M, B., S, B., NB, W., M, B., MF, B., U, B., S, B., R, B., M, B., TB, H., J, B., E, B., S, B., NC, B., C, B., A, B., AL, B., J, B., P, C., N, C., B, C., E, C., M, C., S, C., T, C., LT, D., A, D. S. M., C, D. V. D. B. L., AS, D., S, D., M, D., C, D., C, D., S, D., L, D., R, D., B, D., SE, C., M, E., L, F., M, F., A, F., S, F., M, F., P, G., B, G., A, G., J, G., D, G., A, G., D, G., C, G., S, G., P, G., AM, G., A, G., N, H., MG, H., S, H., B, H., D, H., M, H., C, H., B, I., A, J., L, J., N, J., K, J., FJ, K., S, K., C, K., M, K., F, K., J, K., R, K., A, K., I, K., A, L., JS, L., V, L., FL, B., AS, L., M, L., E, L., J, L., N, L., S, L., K, L., S, M., L, M., J, M., C, M., O, M., G, M., J, M., A, M., R, N., S, N., V, N., A, N., L, N., M, N., F, N., MC, O., S, O., NM, O., V, O., K, Õ., LS, P., R, P., E, P., O, P., L, P., F, P., C, P., A, P., M, P., C, P., A, P., C, P., S, Q., M, R., AC, R., M, R., C, R., F, R., P, R., M, R., A, R., M, R., P, S., R, S., E, S., E, S., C, S., A, S., I, S., V, S., T, S., S, S., B, S., SL, S., F, S., M, T., D, T., J, T., H, T., S, V., S, V., L, V., D, V., N, V., A, V., A, W., Y, W., D, W., T, W., M, Y., T, Y., K, Z., MS, Z., A, Z., A, L., G, N., JG, G., LG, S., MS, H., IE, S., N, W., A, O., HC, M., P, B., J, T., C, C., C, C., C, D., G, L., & C, N. (2025). Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.. medRxiv : the preprint server for health sciences. https://doi.org/10.1101/2025.09.02.25334923

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pubmed · retrieved 2026-09-26T07:52:55.297Z