Novel Missense

Autor: Noor, Badshah, Kari A, Mattison, Sohail, Ahmad, Pankaj, Chopra, H Richard, Johnston, Shakoor, Ahmad, Sher Hayat, Khan, Muhammad Tahir, Sarwar, David J, Cutler, Micheal, Taylor, Gayatri, Vadlamani, Michael E, Zwick, Andrew, Escayg

Publikováno v: Frontiers in neurology. 13

We report the genetic analysis of two consanguineous pedigrees of Pakistani ancestry in which two siblings in each family exhibited developmental delay, epilepsy, intellectual disability and aggressive behavior. Whole-genome sequencing was performed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9bd675302687cb680cc0c92bd1b0e13b
https://pubmed.ncbi.nlm.nih.gov/35911904

Cerebral hypomyelination associated with biallelic variants of FIG4

Autor: Chloe A Stutterd, Miriam Fanjul-Fernández, Moira Blyth, Tiong Yang Tan, Victoria Rodriguez-Casero, Simon Sadedin, Paul J. Lockhart, Ian Craven, Daniel Warren, John H. Livingston, Adeline Vanderver, John Christodoulou, Gayatri Vadlamani, Ian R. Berry, Jonathan B Ruddle, Guy M. Lenk, Susan M. White, Susan Gibb, Lydia Green, Richard J. Leventer, Olga Skibina, Miriam H. Meisler, Cas Simons

Publikováno v: Human Mutation. 40:619-630

The lipid phosphatase gene FIG4 is responsible for Yunis-Varon syndrome and Charcot-Marie-Tooth disease Type 4J, a peripheral neuropathy. We now describe four families with FIG4 variants and prominent abnormalities of central nervous system (CNS) whi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2ed5fded92c7b3609cd0a3b2741e26c2
https://doi.org/10.1002/humu.23720

Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

Autor: Yanick J. Crow, Dorit Lev, Evangeline Wassmer, Adeline Vanderver, Diedre A Kelly, Annette Bley, Jonas Denecke, Sameer M. Zuberi, Despina Eleftheriou, Callum Wilson, Julie Harvengt, François-Guillaume Debray, Laura Adang, Veronica Saletti, Diane Doummar, Simona Orcesi, Bernt Popp, Fanny Mochel, Ayelet Zerem, Margherita Estienne, Arnaud Wiedemann, Itxaso Marti, Cia Sharpe, Tracy A Briggs, Sehoon Park, Stefan Berg, Lien Van Eyck, Alexandre Belot, Thierry Billette de Villemeur, John H. Livingston, Elisa Fazzi, Marie-Christine Nougues, Lubov Blumkin, Miguel Tomas Vila, Christiane Zweier, Francesco Gavazzi, Odile Boespflug-Tanguy, Gunilla Drake Af Hagelsrum, François Feillet, Niklas Darin, Luis Seabra, Davide Tonduti, Bénédicte Héron, Elise Brimble, Roberta Battini, Keith Van Haren, Christophe Barrea, Mathieu P Rodero, Belén Pérez-Dueñas, Gayatri Vadlamani, Ilena Oppermann, Diana Rodriguez, Julie Vogt, Virginie Levrat, Russell C. Dale, Delphine Héron, Gillian I. Rice, Jessica Galli, Sun Hur, Nicholas L. Hartog, Cyril Mignot, Valentina De Giorgis, Loveline A Ayuk

Publikováno v: Human Mutation
Rice, G I, Park, S, Gavazzi, F, Adang, L A, Ayuk, L A, Van Eyck, L, Seabra, L, Barrea, C, Battini, R, Belot, A, Berg, S, Billette de Villemeur, T, Bley, A E, Blumkin, L, Boespflug-Tanguy, O, Briggs, T A, Brimble, E, Dale, R C, Darin, N, Debray, F-G, De Giorgis, V, Denecke, J, Doummar, D, Drake Af Hagelsrum, G, Eleftheriou, D, Estienne, M, Fazzi, E, Feillet, F, Galli, J, Hartog, N, Harvengt, J, Heron, B, Heron, D, Kelly, D A, Lev, D, Levrat, V, Livingston, J H, Marti, I, Mignot, C, Mochel, F, Nougues, M-C, Oppermann, I, Pérez-Dueñas, B, Popp, B, Rodero, M P, Rodriguez, D, Saletti, V, Sharpe, C, Tonduti, D, Vadlamani, G, Van Haren, K, Tomas Vila, M, Vogt, J, Wassmer, E, Wiedemann, A, Wilson, C J, Zerem, A, Zweier, C, Zuberi, S M, Orcesi, S, Vanderver, A L, Hur, S & Crow, Y J 2020, ' Genetic and phenotypic spectrum associated with IFIH1 gain-of-function ', Human Mutation . https://doi.org/10.1002/humu.23975
Human mutation
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Human Mutation, Wiley, 2020, 41 (4), pp.837-849. ⟨10.1002/HUMU.23975⟩
Addi. Archivo Digital para la Docencia y la Investigación
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Human Mutation, 2020, 41 (4), pp.837-849. ⟨10.1002/HUMU.23975⟩

IFIH1 gain-of-function has been reported as a cause of a type I interferonopathy encompassing a spectrum of autoinflammatory phenotypes including Aicardi-Goutieres syndrome and Singleton Merten syndrome. Ascertaining patients through a European and N

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63aaaf082ad29df3f7f1b2a21ebc4b9b

Neuropsychological outcomes following paediatric temporal lobe surgery for epilepsies: Evidence from a systematic review

Autor: G. Bowmer, Mitch Waterman, Alice E. Flint, Gayatri Vadlamani, Matthew C.H.J. Morrall, Paul Chumas

Publikováno v: Seizure. 52:89-116

Objective The systematic review aimed to assess the neuropsychological outcomes of temporal lobe resections for epilepsy in children. Additional objectives included determining whether earlier age at surgery leads to better neuropsychological outcome

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::841477d6935ff8b854274c534d2de3ca
https://doi.org/10.1016/j.seizure.2017.09.011

Cystic Leukoencephalopathy due to NDUFV1 mutation—A Report of the Phenotype and Its Rare Co-occurrence with Primary Hyperoxaluria

Autor: Gayatri Vadlamani, Charlotte L. Alston, Alistair Morris, Robert W. Taylor, Daniel Warren, A. Silwal

Publikováno v: Journal of Pediatric Neurology. 14:126-132

The diagnosis of pediatric metabolic disease is complicated and markers of dysfunction are often key in directing appropriate genetic testing. We present a 4-year-old girl with developmental regression following an episode of chicken pox at 7 months.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7818750adf5f462234745689260affc1
https://doi.org/10.1055/s-0036-1584303