Article
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Brain : a journal of neurology - 1 Dec 2023
Lischka Annette, Eggermann Katja, Record Christopher J, Dohrn Maike F, Laššuthová Petra, Kraft Florian, Begemann Matthias, Dey Daniela, Eggermann Thomas, Beijer Danique, Šoukalová Jana, Laura Matilde, Rossor Alexander M, Mazanec Radim, Van Lent Jonas, Tomaselli Pedro J, Ungelenk Martin, Debus Karlien Y, Feely Shawna M E, Gläser Dieter, Jagadeesh Sujatha, Martin Madelena, Govindaraj Geeta M, Singhi Pratibha, Baineni Revanth, Biswal Niranjan, Ibarra-Ramírez Marisol, Bonduelle Maryse, Gess Burkhard, Romero Sánchez Juan, Suthar Renu, Udani Vrajesh, Nalini Atchayaram, Unnikrishnan Gopikrishnan, Marques Wilson, Mercier Sandra, Procaccio Vincent, Bris Céline, Suresh Beena, Reddy Vaishnavi, Skorupinska Mariola, Bonello-Palot Nathalie, Mochel Fanny, Dahl Georg, Sasidharan Karthika, Devassikutty Fiji M, Nampoothiri Sheela, Rodovalho Doriqui Maria J, Müller-Felber Wolfgang, Vill Katharina, Haack Tobias B, Dufke Andreas, Abele Michael, Stucka Rolf, Siddiqi Saima, Ullah Noor, Spranger Stephanie, Chiabrando Deborah, Bolgül Behiye S, Parman Yesim, Seeman Pavel, Lampert Angelika, Schulz Jörg B, Wood John N, Cox James J, Auer-Grumbach Michaela, Timmerman Vincent, de Winter Jonathan, Themistocleous Andreas C, Shy Michael, Bennett David L, Baets Jonathan, Hübner Christian A, Leipold Enrico, Züchner Stephan, Elbracht Miriam, Çakar Arman, Senderek Jan, Hornemann Thorsten, Woods C Geoffrey, Reilly Mary M, Kurth Ingo
Abstract excerpt
Congenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders exclusively or predominantly affecting the sensory and autonomic neurons. Due to the rarity of the diseases and findings based mainly on single case reports or small case series, knowledge about these disorders is limited. Here, we describe the molecular workup of...
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