Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series

Gaofeng Zhu, Blaise Didry-Barca, Luis Seabra, Gillian I Rice, Carolina Uggenti, Moncef Touimy, Mathieu P Rodero, Rolando Hernandez Trapero, Vincent Bondet, Darragh Duffy, Philippe Gautier, Katie Livingstone, Fraser J H Sutherland, Pierre Lebon, Mélanie Parisot, Christine Bole-Feysot, Cécile Masson, Nicolas Cagnard, Patrick Nitschké, Glenn Anderson, Birgit Assmann, Magalie Barth, Odile Boespflug-Tanguy, Felice D’Arco, Imen Dorboz, Thomas Giese, Yael Hacohen, Miroslava Hancarova, Marie Husson, Anne Lepine, Ming Lim, Maria Margherita Mancardi, Isabelle Melki, David Neubauer, Mario Sa, Zdenek Sedlacek, Angelika Seitz, Mika Shapiro Rottman, Sylvia Sanquer, Rachel Straussberg, Markéta Vlčková, Frédéric Villéga, Matias Wagner, Ayelet Zerem, Joseph A Marsh, Marie-Louise Frémond, Marios Kaliakatsos, Yanick J Crow, Marie-Thérèse El-Daher, Alice Lepelley

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DOI: 10.1016/s1474-4422(24)00526-x
Published: 2025-03
Container: The Lancet Neurology
Publisher: Elsevier BV
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1016/s1474-4422-24-00526-x,
  title = {Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series},
  author = {Gaofeng Zhu and Blaise Didry-Barca and Luis Seabra and Gillian I Rice and Carolina Uggenti and Moncef Touimy and Mathieu P Rodero and Rolando Hernandez Trapero and Vincent Bondet and Darragh Duffy and Philippe Gautier and Katie Livingstone and Fraser J H Sutherland and Pierre Lebon and Mélanie Parisot and Christine Bole-Feysot and Cécile Masson and Nicolas Cagnard and Patrick Nitschké and Glenn Anderson and Birgit Assmann and Magalie Barth and Odile Boespflug-Tanguy and Felice D’Arco and Imen Dorboz and Thomas Giese and Yael Hacohen and Miroslava Hancarova and Marie Husson and Anne Lepine and Ming Lim and Maria Margherita Mancardi and Isabelle Melki and David Neubauer and Mario Sa and Zdenek Sedlacek and Angelika Seitz and Mika Shapiro Rottman and Sylvia Sanquer and Rachel Straussberg and Markéta Vlčková and Frédéric Villéga and Matias Wagner and Ayelet Zerem and Joseph A Marsh and Marie-Louise Frémond and Marios Kaliakatsos and Yanick J Crow and Marie-Thérèse El-Daher and Alice Lepelley},
  year = {2025},
  journal = {The Lancet Neurology},
  doi = {10.1016/s1474-4422(24)00526-x},
  url = {https://doi.org/10.1016/s1474-4422(24)00526-x}
}

RIS

TY  - JOUR
TI  - Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series
AU  - Gaofeng Zhu
AU  - Blaise Didry-Barca
AU  - Luis Seabra
AU  - Gillian I Rice
AU  - Carolina Uggenti
AU  - Moncef Touimy
AU  - Mathieu P Rodero
AU  - Rolando Hernandez Trapero
AU  - Vincent Bondet
AU  - Darragh Duffy
AU  - Philippe Gautier
AU  - Katie Livingstone
AU  - Fraser J H Sutherland
AU  - Pierre Lebon
AU  - Mélanie Parisot
AU  - Christine Bole-Feysot
AU  - Cécile Masson
AU  - Nicolas Cagnard
AU  - Patrick Nitschké
AU  - Glenn Anderson
AU  - Birgit Assmann
AU  - Magalie Barth
AU  - Odile Boespflug-Tanguy
AU  - Felice D’Arco
AU  - Imen Dorboz
AU  - Thomas Giese
AU  - Yael Hacohen
AU  - Miroslava Hancarova
AU  - Marie Husson
AU  - Anne Lepine
AU  - Ming Lim
AU  - Maria Margherita Mancardi
AU  - Isabelle Melki
AU  - David Neubauer
AU  - Mario Sa
AU  - Zdenek Sedlacek
AU  - Angelika Seitz
AU  - Mika Shapiro Rottman
AU  - Sylvia Sanquer
AU  - Rachel Straussberg
AU  - Markéta Vlčková
AU  - Frédéric Villéga
AU  - Matias Wagner
AU  - Ayelet Zerem
AU  - Joseph A Marsh
AU  - Marie-Louise Frémond
AU  - Marios Kaliakatsos
AU  - Yanick J Crow
AU  - Marie-Thérèse El-Daher
AU  - Alice Lepelley
PY  - 2025
JO  - The Lancet Neurology
DO  - 10.1016/s1474-4422(24)00526-x
UR  - https://doi.org/10.1016/s1474-4422(24)00526-x
ER  -

APA

Zhu, G., Didry-Barca, B., Seabra, L., Rice, G. I., Uggenti, C., Touimy, M., Rodero, M. P., Trapero, R. H., Bondet, V., Duffy, D., Gautier, P., Livingstone, K., Sutherland, F. J. H., Lebon, P., Parisot, M., Bole-Feysot, C., Masson, C., Cagnard, N., Nitschké, P., Anderson, G., Assmann, B., Barth, M., Boespflug-Tanguy, O., D’Arco, F., Dorboz, I., Giese, T., Hacohen, Y., Hancarova, M., Husson, M., Lepine, A., Lim, M., Mancardi, M. M., Melki, I., Neubauer, D., Sa, M., Sedlacek, Z., Seitz, A., Rottman, M. S., Sanquer, S., Straussberg, R., Vlčková, M., Villéga, F., Wagner, M., Zerem, A., Marsh, J. A., Frémond, M., Kaliakatsos, M., Crow, Y. J., El-Daher, M., & Lepelley, A. (2025). Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series. The Lancet Neurology. https://doi.org/10.1016/s1474-4422(24)00526-x

Source records

crossref · retrieved 2026-11-10T15:10:10.903Z