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, Jousselin K, Chatron N, Barcia G, Keren B, Mignot C, Charles P, Besnard T, Paluch R, de Sainte Agathe JM, Almanza Fuerte EP, 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, Bednarek-Weirauch N, Begemann M, Bennett MF, Bensabath U, Bézieau S, Bhouri R, Biehler M, Hammer TB, Bogoin J, Bonanno E, Boussion S, Bris C, Brosseau-Beauvir A, Bruel AL, Briand-Suleau A, Buratti J, Celse T, Chambon P, Chemaly N, Chesneau B, Colin E, Colmard M, Colson C, Conrad S, Courtin T, Creveaux I, Cullier AC, Dang LT, de Saint Martin A, de Vanssay de Blavous Legendre C, Demeer B, Denommé-Pichon AS, Diekhoff P, DiTroia S, Doco-Fenzy M, Dubourg C, Dubucs C, Ducreux S, Dufour L, Duquet R, Durand B, El Chehadeh S, 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, Haack TB, Härting N, Häusler MG, Heide S, Herget T, Héron B, Héron D, Herwig J, Heulin M, Holling T, Houdayer C, Isidor B, Jacquette A, Januel L, Jean-Marçais N, Kaiser FJ, Kaya S, King C, Konyukh M, Kraft F, Krause J, Kirstetter R, Kuechler A, Kurth I, Kutsche K, Labalme A, Laloy JS, Laugel V, Le Bricquir F, Lèbre AS, Lebrun M, Leguern E, Levy J, Lieffering N, Lyonnet S, Lüthy K, Macdonald SMW, Mansour-Hendili L, Maraval J, Marquardt I, Mattausch C, Mercier S, 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, Olivieri S, Õunap K, Pais LS, 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, Ruault V, Rupin-Mas M, Saugier-Veber P, Saunier A, Saneto R, Sarrazin E, Sarret C, Schaefer E, Schluth-Bolard C, Schneider A, Schumann I, Seplyarskiy VB, Spranger S, Smol T, Sturm M, Sunyaev SR, Sperelakis-Beedham B, Stenton SL, Stock F, Tharreau M, Torun D, Toulouse J, Thiyagarajah H, Valence S, Valleix S, Van-Gils J, Villard L, Ville D, Villeneuve N, Vitobello A, Waernessyckle A, Wagner J, Weber Y, Wieczorek D, Witkowski T, Yadavilli M, Yammine T, Zaafrane-Khachnaoui K, Zaki MS, Ziegler A, Bramswig NC, 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: 10.1038/s41588-026-02547-5
Published: 2026 Apr
Container: Nature genetics
Publisher: Not recorded
Open access: yes

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BibTeX

@article{allodium:10.1038/s41588-026-02547-5,
  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 Jousselin K and Chatron N and Barcia G and Keren B and Mignot C and Charles P and Besnard T and Paluch R and de Sainte Agathe JM and Almanza Fuerte EP 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 Bednarek-Weirauch N 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 Bris C and Brosseau-Beauvir A and Bruel AL and Briand-Suleau A and Buratti J and Celse T and Chambon P and Chemaly N and Chesneau B and Colin E and Colmard M and Colson C and Conrad S and Courtin T and Creveaux I and Cullier AC and Dang LT and de Saint Martin A and de Vanssay de Blavous Legendre C and Demeer B and Denommé-Pichon AS and Diekhoff P 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 El Chehadeh S 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 Haack TB and Härting N and Häusler MG and Heide S and Herget T and Héron B and Héron D and Herwig J and Heulin M and Holling T and Houdayer C and Isidor B and Jacquette A and Januel L and Jean-Marçais N 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 Kutsche K and Labalme A and Laloy JS and Laugel V and Le Bricquir F and Lèbre AS and Lebrun M and Leguern E and Levy J and Lieffering N and Lyonnet S and Lüthy K and Macdonald SMW and Mansour-Hendili L and Maraval J and Marquardt I and Mattausch C and Mercier S 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 Olivieri S and Õunap K and Pais LS 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 Ruault V and Rupin-Mas M and Saugier-Veber P and Saunier A and Saneto R and Sarrazin E and Sarret C and Schaefer E and Schluth-Bolard C and Schneider A and Schumann I and Seplyarskiy VB and Spranger S and Smol T and Sturm M and Sunyaev SR 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 Van-Gils J and Villard L and Ville D and Villeneuve N and Vitobello A and Waernessyckle A and Wagner J 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 Bramswig NC 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 = {2026},
  journal = {Nature genetics},
  doi = {10.1038/s41588-026-02547-5},
  url = {https://doi.org/10.1038/s41588-026-02547-5}
}

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  - Jousselin K
AU  - Chatron N
AU  - Barcia G
AU  - Keren B
AU  - Mignot C
AU  - Charles P
AU  - Besnard T
AU  - Paluch R
AU  - de Sainte Agathe JM
AU  - Almanza Fuerte EP
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  - Bednarek-Weirauch N
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  - Bris C
AU  - Brosseau-Beauvir A
AU  - Bruel AL
AU  - Briand-Suleau A
AU  - Buratti J
AU  - Celse T
AU  - Chambon P
AU  - Chemaly N
AU  - Chesneau B
AU  - Colin E
AU  - Colmard M
AU  - Colson C
AU  - Conrad S
AU  - Courtin T
AU  - Creveaux I
AU  - Cullier AC
AU  - Dang LT
AU  - de Saint Martin A
AU  - de Vanssay de Blavous Legendre C
AU  - Demeer B
AU  - Denommé-Pichon AS
AU  - Diekhoff P
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  - El Chehadeh S
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  - Haack TB
AU  - Härting N
AU  - Häusler MG
AU  - Heide S
AU  - Herget T
AU  - Héron B
AU  - Héron D
AU  - Herwig J
AU  - Heulin M
AU  - Holling T
AU  - Houdayer C
AU  - Isidor B
AU  - Jacquette A
AU  - Januel L
AU  - Jean-Marçais N
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  - Kutsche K
AU  - Labalme A
AU  - Laloy JS
AU  - Laugel V
AU  - Le Bricquir F
AU  - Lèbre AS
AU  - Lebrun M
AU  - Leguern E
AU  - Levy J
AU  - Lieffering N
AU  - Lyonnet S
AU  - Lüthy K
AU  - Macdonald SMW
AU  - Mansour-Hendili L
AU  - Maraval J
AU  - Marquardt I
AU  - Mattausch C
AU  - Mercier S
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  - Olivieri S
AU  - Õunap K
AU  - Pais LS
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  - Ruault V
AU  - Rupin-Mas M
AU  - Saugier-Veber P
AU  - Saunier A
AU  - Saneto R
AU  - Sarrazin E
AU  - Sarret C
AU  - Schaefer E
AU  - Schluth-Bolard C
AU  - Schneider A
AU  - Schumann I
AU  - Seplyarskiy VB
AU  - Spranger S
AU  - Smol T
AU  - Sturm M
AU  - Sunyaev SR
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  - Van-Gils J
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AU  - Ville D
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AU  - Waernessyckle A
AU  - Wagner J
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  - Bramswig NC
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  - 2026
JO  - Nature genetics
DO  - 10.1038/s41588-026-02547-5
UR  - https://doi.org/10.1038/s41588-026-02547-5
ER  -

APA

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pubmed · retrieved 2026-09-25T14:23:11.244Z