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Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy

MedGen UID:
946104
Concept ID:
CN263076
Disease or Syndrome
Synonyms: encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy; encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy; PEBEL; encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy; PEBEL; PEBEL
 
Related genes: NAXE, NAXD
 
Monarch Initiative: MONDO:0014960
OMIM® Phenotypic series: PS617186

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Triplett JD, Kutlubaev MA, Kermode AG, Hardy T
Pract Neurol 2022 Jun;22(3):183-189. Epub 2022 Jan 19 doi: 10.1136/practneurol-2021-003194. PMID: 35046115
Bernard-Valnet R, Koralnik IJ, Du Pasquier R
Ann Neurol 2021 Dec;90(6):865-873. Epub 2021 Sep 7 doi: 10.1002/ana.26198. PMID: 34405435Free PMC Article
Wang CX
Paediatr Drugs 2021 May;23(3):213-221. Epub 2021 Apr 8 doi: 10.1007/s40272-021-00441-7. PMID: 33830467Free PMC Article

Recent clinical studies

Etiology

Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048
van der Knaap MS, Schiffmann R, Mochel F, Wolf NI
Lancet Neurol 2019 Oct;18(10):962-972. Epub 2019 Jul 12 doi: 10.1016/S1474-4422(19)30143-7. PMID: 31307818
Lynch DS, Wade C, Paiva ARB, John N, Kinsella JA, Merwick Á, Ahmed RM, Warren JD, Mummery CJ, Schott JM, Fox NC, Houlden H, Adams ME, Davagnanam I, Murphy E, Chataway J
J Neurol Neurosurg Psychiatry 2019 May;90(5):543-554. Epub 2018 Nov 22 doi: 10.1136/jnnp-2018-319481. PMID: 30467211Free PMC Article
Marelli C, Salsano E, Politi LS, Labauge P
J Neurol Neurosurg Psychiatry 2019 Feb;90(2):211-218. Epub 2018 Aug 27 doi: 10.1136/jnnp-2018-318666. PMID: 30150321
Köhler W, Curiel J, Vanderver A
Nat Rev Neurol 2018 Feb;14(2):94-105. Epub 2018 Jan 5 doi: 10.1038/nrneurol.2017.175. PMID: 29302065Free PMC Article

Diagnosis

Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048
van der Knaap MS, Schiffmann R, Mochel F, Wolf NI
Lancet Neurol 2019 Oct;18(10):962-972. Epub 2019 Jul 12 doi: 10.1016/S1474-4422(19)30143-7. PMID: 31307818
Lynch DS, Wade C, Paiva ARB, John N, Kinsella JA, Merwick Á, Ahmed RM, Warren JD, Mummery CJ, Schott JM, Fox NC, Houlden H, Adams ME, Davagnanam I, Murphy E, Chataway J
J Neurol Neurosurg Psychiatry 2019 May;90(5):543-554. Epub 2018 Nov 22 doi: 10.1136/jnnp-2018-319481. PMID: 30467211Free PMC Article
Köhler W, Curiel J, Vanderver A
Nat Rev Neurol 2018 Feb;14(2):94-105. Epub 2018 Jan 5 doi: 10.1038/nrneurol.2017.175. PMID: 29302065Free PMC Article
Sarbu N, Shih RY, Jones RV, Horkayne-Szakaly I, Oleaga L, Smirniotopoulos JG
Radiographics 2016 Sep-Oct;36(5):1426-47. doi: 10.1148/rg.2016160031. PMID: 27618323

Therapy

Manikandan M, Azariah B, Sharma R
J Cancer Res Ther 2023 Oct 1;19(7):2076-2078. Epub 2023 Jan 12 doi: 10.4103/jcrt.jcrt_2165_21. PMID: 38376324
Rost NS, Meschia JF, Gottesman R, Wruck L, Helmer K, Greenberg SM; DISCOVERY Investigators
Stroke 2021 Aug;52(8):e499-e516. Epub 2021 May 27 doi: 10.1161/STROKEAHA.120.031611. PMID: 34039035Free PMC Article
Alstadhaug KB, Myhr KM, Rinaldo CH
Tidsskr Nor Laegeforen 2017 Dec 12;137(23-24) doi: 10.4045/tidsskr.16.1092. PMID: 29231623
Bhojwani D, Sabin ND, Pei D, Yang JJ, Khan RB, Panetta JC, Krull KR, Inaba H, Rubnitz JE, Metzger ML, Howard SC, Ribeiro RC, Cheng C, Reddick WE, Jeha S, Sandlund JT, Evans WE, Pui CH, Relling MV
J Clin Oncol 2014 Mar 20;32(9):949-59. Epub 2014 Feb 18 doi: 10.1200/JCO.2013.53.0808. PMID: 24550419Free PMC Article
Tormoehlen LM
Psychiatr Clin North Am 2013 Jun;36(2):277-92. Epub 2013 Apr 12 doi: 10.1016/j.psc.2013.02.006. PMID: 23688692

Prognosis

van der Knaap MS, Schiffmann R, Mochel F, Wolf NI
Lancet Neurol 2019 Oct;18(10):962-972. Epub 2019 Jul 12 doi: 10.1016/S1474-4422(19)30143-7. PMID: 31307818
Köhler W, Curiel J, Vanderver A
Nat Rev Neurol 2018 Feb;14(2):94-105. Epub 2018 Jan 5 doi: 10.1038/nrneurol.2017.175. PMID: 29302065Free PMC Article
Fischer M, Schmutzhard E
J Neurol 2017 Aug;264(8):1608-1616. Epub 2017 Jan 4 doi: 10.1007/s00415-016-8377-8. PMID: 28054130Free PMC Article
Tormoehlen LM
Psychiatr Clin North Am 2013 Jun;36(2):277-92. Epub 2013 Apr 12 doi: 10.1016/j.psc.2013.02.006. PMID: 23688692
Poll-The BT, Engelen M
Semin Neurol 2012 Feb;32(1):42-50. Epub 2012 Mar 15 doi: 10.1055/s-0032-1306385. PMID: 22422205

Clinical prediction guides

van der Knaap MS, Bugiani M, Abbink TEM
Handb Clin Neurol 2024;204:77-94. doi: 10.1016/B978-0-323-99209-1.00015-6. PMID: 39322396
Chadarevian JP, Hasselmann J, Lahian A, Capocchi JK, Escobar A, Lim TE, Le L, Tu C, Nguyen J, Kiani Shabestari S, Carlen-Jones W, Gandhi S, Bu G, Hume DA, Pridans C, Wszolek ZK, Spitale RC, Davtyan H, Blurton-Jones M
Neuron 2024 Aug 21;112(16):2686-2707.e8. Epub 2024 Jun 18 doi: 10.1016/j.neuron.2024.05.023. PMID: 38897209
Tsai PC, Fuh JL, Yang CC, Chang A, Lien LM, Wang PN, Lai KL, Tsai YS, Lee YC, Liao YC
Ann Clin Transl Neurol 2021 Nov;8(11):2121-2131. Epub 2021 Oct 15 doi: 10.1002/acn3.51467. PMID: 34652888Free PMC Article
Crow YJ, Marshall H, Rice GI, Seabra L, Jenkinson EM, Baranano K, Battini R, Berger A, Blair E, Blauwblomme T, Bolduc F, Boddaert N, Buckard J, Burnett H, Calvert S, Caumes R, Ng AC, Chiang D, Clifford DB, Cordelli DM, de Burca A, Demic N, Desguerre I, De Waele L, Di Fonzo A, Dunham SR, Dyack S, Elmslie F, Ferrand M, Fisher G, Karimiani EG, Ghoumid J, Gibbon F, Goel H, Hilmarsen HT, Hughes I, Jacob A, Jones EA, Kumar R, Leventer RJ, MacDonald S, Maroofian R, Mehta SG, Metz I, Monfrini E, Neumann D, Noetzel M, O'Driscoll M, Õunap K, Panzer A, Parikh S, Prabhakar P, Ramond F, Sandford R, Saneto R, Soh C, Stutterd CA, Subramanian GM, Talbot K, Thomas RH, Toro C, Touraine R, Wakeling E, Wassmer E, Whitney A, Livingston JH, O'Keefe RT, Badrock AP
Am J Med Genet A 2021 Jan;185(1):15-25. Epub 2020 Oct 7 doi: 10.1002/ajmg.a.61907. PMID: 33029936
Ayrignac X, Nicolas G, Carra-Dallière C, Hannequin D, Labauge P
JAMA Neurol 2017 Aug 1;74(8):1000-1008. doi: 10.1001/jamaneurol.2017.1062. PMID: 28628708

Recent systematic reviews

Iso-Markku P, Kujala UM, Knittle K, Polet J, Vuoksimaa E, Waller K
Br J Sports Med 2022 Jun;56(12):701-709. Epub 2022 Mar 17 doi: 10.1136/bjsports-2021-104981. PMID: 35301183Free PMC Article
Mühlbauer V, Möhler R, Dichter MN, Zuidema SU, Köpke S, Luijendijk HJ
Cochrane Database Syst Rev 2021 Dec 17;12(12):CD013304. doi: 10.1002/14651858.CD013304.pub2. PMID: 34918337Free PMC Article
Bosnjak Kuharic D, Markovic D, Brkovic T, Jeric Kegalj M, Rubic Z, Vuica Vukasovic A, Jeroncic A, Puljak L
Cochrane Database Syst Rev 2021 Sep 17;9(9):CD012820. doi: 10.1002/14651858.CD012820.pub2. PMID: 34532852Free PMC Article
Cao Q, Tan CC, Xu W, Hu H, Cao XP, Dong Q, Tan L, Yu JT
J Alzheimers Dis 2020;73(3):1157-1166. doi: 10.3233/JAD-191092. PMID: 31884487
McShane R, Westby MJ, Roberts E, Minakaran N, Schneider L, Farrimond LE, Maayan N, Ware J, Debarros J
Cochrane Database Syst Rev 2019 Mar 20;3(3):CD003154. doi: 10.1002/14651858.CD003154.pub6. PMID: 30891742Free PMC Article

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