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Quoted phrase not found in phrase index: "Encephalopathy, acute, infection-induced, susceptibility to, 9"
Page 1
c.202_204del in NUP214 causes late onset form of febrile encephalopathy.
Farooqui S, Narayanan DL, Mascarenhas S, do Rosario MC, Nair KV, Periyasamy R, Shukla A. Farooqui S, et al. Am J Med Genet A. 2024 May;194(5):e63529. doi: 10.1002/ajmg.a.63529. Epub 2024 Jan 5. Am J Med Genet A. 2024. PMID: 38179855
Biallelic pathogenic variants in NUP214 are known to cause susceptibility to acute infection-induced encephalopathy-9 (IIAE9, MIM#618426), which is characterized by severe and early-onset febrile encephalopathy causing neuroregression, de …
Biallelic pathogenic variants in NUP214 are known to cause susceptibility to acute infection-induced encephal …
A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy.
Straka B, Koblížek M, Splítková B, Valkovičová R, Krsková L, Kalinová M, Vlčková M, Zámečník J, Laššuthová P, Sedláčková L, Staněk D, Maulisová A, Tichý M, Kynčl M, Kršek P. Straka B, et al. Epilepsia Open. 2024 Feb;9(1):424-431. doi: 10.1002/epi4.12863. Epub 2023 Dec 14. Epilepsia Open. 2024. PMID: 37943122 Free PMC article.
(Ile1745Val) (Chr2[GRCh37]:g.109382228A>G), a gene associated with a susceptibility to infection-induced acute necrotizing encephalopathy. ...Therefore, we decided to surgically remove a piece of brain tissue in order to clarify the di …
(Ile1745Val) (Chr2[GRCh37]:g.109382228A>G), a gene associated with a susceptibility to infection-induced acute …