Etiology
Carlson RJ,
Walsh T,
Mandell JB,
Aburayyan A,
Lee MK,
Gulsuner S,
Horn DL,
Ou HC,
Sie KCY,
Mancl L,
Rubinstein J,
King MC
JAMA Otolaryngol Head Neck Surg
2023 Mar 1;149(3):212-222.
doi: 10.1001/jamaoto.2022.4463.
PMID: 36633841Free PMC Article
Moein M,
Vlassis IM,
Saidi R
Transplant Proc
2022 Dec;54(10):2744-2747.
Epub 2022 Nov 8
doi: 10.1016/j.transproceed.2022.10.020.
PMID: 36369142
Vos B,
Noll D,
Whittingham J,
Pigeon M,
Bagatto M,
Fitzpatrick EM
Ear Hear
2021 Nov-Dec 01;42(6):1447-1461.
doi: 10.1097/AUD.0000000000001055.
PMID: 33928914
Tsang SH,
Aycinena ARP,
Sharma T
Adv Exp Med Biol
2018;1085:167-170.
doi: 10.1007/978-3-319-95046-4_32.
PMID: 30578505
Riga M,
Korres G,
Chouridis P,
Naxakis S,
Danielides V
Int J Pediatr Otorhinolaryngol
2018 Dec;115:156-164.
Epub 2018 Oct 4
doi: 10.1016/j.ijporl.2018.10.005.
PMID: 30368378
Diagnosis
Möller B,
Becker LL,
Saffari A,
Afenjar A,
Coci EG,
Williamson R,
Ward-Melver C,
Gibaud M,
Sedláčková L,
Laššuthová P,
Libá Z,
Vlčková M,
William N,
Klee EW,
Gavrilova RH,
Lévy J,
Capri Y,
Scavina M,
Körner RW,
Valivullah Z,
Weiß C,
Möller GM,
Frazier Z,
Roberts A,
Gener B,
Scala M,
Striano P,
Zara F,
Thiel M,
Sinnema M,
Kamsteeg EJ,
Donkervoort S,
Duboc V,
Zaafrane-Khachnaoui K,
Elkhateeb N,
Selim L,
Margot H,
Marin V,
Beneteau C,
Isidor B,
Cogne B,
Keren B,
Küsters B,
Beggs AH,
Sveden A,
Chopra M,
Genetti CA,
Nicolai J,
Dötsch J,
Koy A,
Bönnemann CG,
von der Hagen M,
von Kleist-Retzow JC,
Voermans NC,
Jungbluth H,
Dafsari HS
Brain
2025 Feb 3;148(2):597-612.
doi: 10.1093/brain/awae183.
PMID: 38848546Free PMC Article
Reda Del Barrio S,
García Fernández A,
Quesada-Espinosa JF,
Sánchez-Calvín MT,
Gómez-Manjón I,
Sierra-Tomillo O,
Juárez-Rufián A,
de Vergas Gutiérrez J
Acta Otorrinolaringol Esp (Engl Ed)
2024 Mar-Apr;75(2):83-93.
Epub 2024 Jan 13
doi: 10.1016/j.otoeng.2023.07.002.
PMID: 38224868
Dia Y,
Loum B,
Dieng YJKB,
Diop JPD,
Adadey SM,
Aboagye ET,
Ba SA,
Touré AA,
Niang F,
Diaga Sarr P,
Tidiane Ly CA,
Sène ARG,
Kock C,
Bassier R,
Popel K,
Ndiaye Diallo R,
Wonkam A,
Diallo BK
Genes (Basel)
2023 Feb 23;14(3)
doi: 10.3390/genes14030562.
PMID: 36980833Free PMC Article
Carlson RJ,
Walsh T,
Mandell JB,
Aburayyan A,
Lee MK,
Gulsuner S,
Horn DL,
Ou HC,
Sie KCY,
Mancl L,
Rubinstein J,
King MC
JAMA Otolaryngol Head Neck Surg
2023 Mar 1;149(3):212-222.
doi: 10.1001/jamaoto.2022.4463.
PMID: 36633841Free PMC Article
Vezyroglou A,
Akilapa R,
Barwick K,
Koene S,
Brownstein CA,
Holder-Espinasse M,
Fry AE,
Németh AH,
Tofaris GK,
Hay E,
Hughes I,
Mansour S,
Mordekar SR,
Splitt M,
Turnpenny PD,
Demetriou D,
Koopmann TT,
Ruivenkamp CAL,
Agrawal PB,
Carr L,
Clowes V,
Ghali N,
Holder SE,
Radley J,
Male A,
Sisodiya SM,
Kurian MA,
Cross JH,
Balasubramanian M
Neurology
2022 Oct 4;99(14):e1511-e1526.
Epub 2022 Jul 18
doi: 10.1212/WNL.0000000000200927.
PMID: 36192182Free PMC Article
Therapy
Moein M,
Vlassis IM,
Saidi R
Transplant Proc
2022 Dec;54(10):2744-2747.
Epub 2022 Nov 8
doi: 10.1016/j.transproceed.2022.10.020.
PMID: 36369142
Vos B,
Noll D,
Whittingham J,
Pigeon M,
Bagatto M,
Fitzpatrick EM
Ear Hear
2021 Nov-Dec 01;42(6):1447-1461.
doi: 10.1097/AUD.0000000000001055.
PMID: 33928914
Carreau C,
Lenglet T,
Mosnier I,
Lahlou G,
Fargeot G,
Weiss N,
Demeret S,
Salachas F,
Veauville-Merllié A,
Acquaviva C,
Nadjar Y
Ann Clin Transl Neurol
2020 Feb;7(2):250-253.
Epub 2020 Feb 5
doi: 10.1002/acn3.50977.
PMID: 32022482Free PMC Article
Rizzo F,
Ramirez A,
Compagnucci C,
Salani S,
Melzi V,
Bordoni A,
Fortunato F,
Niceforo A,
Bresolin N,
Comi GP,
Bertini E,
Nizzardo M,
Corti S
Sci Rep
2017 Apr 6;7:46271.
doi: 10.1038/srep46271.
PMID: 28382968Free PMC Article
Bay A,
Keskin M,
Hizli S,
Uygun H,
Dai A,
Gumruk F
Int J Hematol
2010 Oct;92(3):524-6.
Epub 2010 Sep 11
doi: 10.1007/s12185-010-0681-y.
PMID: 20835854
Prognosis
Möller B,
Becker LL,
Saffari A,
Afenjar A,
Coci EG,
Williamson R,
Ward-Melver C,
Gibaud M,
Sedláčková L,
Laššuthová P,
Libá Z,
Vlčková M,
William N,
Klee EW,
Gavrilova RH,
Lévy J,
Capri Y,
Scavina M,
Körner RW,
Valivullah Z,
Weiß C,
Möller GM,
Frazier Z,
Roberts A,
Gener B,
Scala M,
Striano P,
Zara F,
Thiel M,
Sinnema M,
Kamsteeg EJ,
Donkervoort S,
Duboc V,
Zaafrane-Khachnaoui K,
Elkhateeb N,
Selim L,
Margot H,
Marin V,
Beneteau C,
Isidor B,
Cogne B,
Keren B,
Küsters B,
Beggs AH,
Sveden A,
Chopra M,
Genetti CA,
Nicolai J,
Dötsch J,
Koy A,
Bönnemann CG,
von der Hagen M,
von Kleist-Retzow JC,
Voermans NC,
Jungbluth H,
Dafsari HS
Brain
2025 Feb 3;148(2):597-612.
doi: 10.1093/brain/awae183.
PMID: 38848546Free PMC Article
Huang D,
Song X,
Ma J,
Li X,
Guo Y,
Li M,
Luo H,
Fang Z,
Yang C,
Xie L,
Jiang L
Eur J Pediatr
2023 Feb;182(2):825-836.
Epub 2022 Dec 9
doi: 10.1007/s00431-022-04744-w.
PMID: 36484864
Pavone P,
Pappalardo XG,
Ruggieri M,
Falsaperla R,
Parano E
Medicine (Baltimore)
2022 Aug 5;101(31):e29413.
doi: 10.1097/MD.0000000000029413.
PMID: 35945798Free PMC Article
Glick H,
Sharma A
Hear Res
2017 Jan;343:191-201.
Epub 2016 Sep 6
doi: 10.1016/j.heares.2016.08.012.
PMID: 27613397Free PMC Article
Gedalia A,
Khan TA,
Shetty AK,
Dimitriades VR,
Espinoza LR
Clin Rheumatol
2016 Jul;35(7):1879-84.
Epub 2015 Jan 24
doi: 10.1007/s10067-015-2870-9.
PMID: 25616361
Clinical prediction guides
Möller B,
Becker LL,
Saffari A,
Afenjar A,
Coci EG,
Williamson R,
Ward-Melver C,
Gibaud M,
Sedláčková L,
Laššuthová P,
Libá Z,
Vlčková M,
William N,
Klee EW,
Gavrilova RH,
Lévy J,
Capri Y,
Scavina M,
Körner RW,
Valivullah Z,
Weiß C,
Möller GM,
Frazier Z,
Roberts A,
Gener B,
Scala M,
Striano P,
Zara F,
Thiel M,
Sinnema M,
Kamsteeg EJ,
Donkervoort S,
Duboc V,
Zaafrane-Khachnaoui K,
Elkhateeb N,
Selim L,
Margot H,
Marin V,
Beneteau C,
Isidor B,
Cogne B,
Keren B,
Küsters B,
Beggs AH,
Sveden A,
Chopra M,
Genetti CA,
Nicolai J,
Dötsch J,
Koy A,
Bönnemann CG,
von der Hagen M,
von Kleist-Retzow JC,
Voermans NC,
Jungbluth H,
Dafsari HS
Brain
2025 Feb 3;148(2):597-612.
doi: 10.1093/brain/awae183.
PMID: 38848546Free PMC Article
Kalinousky AJ,
Luperchio TR,
Schrode KM,
Harris JR,
Zhang L,
DeLeon VB,
Fahrner JA,
Lauer AM,
Bjornsson HT
Genes (Basel)
2023 Dec 28;15(1)
doi: 10.3390/genes15010048.
PMID: 38254937Free PMC Article
Dia Y,
Loum B,
Dieng YJKB,
Diop JPD,
Adadey SM,
Aboagye ET,
Ba SA,
Touré AA,
Niang F,
Diaga Sarr P,
Tidiane Ly CA,
Sène ARG,
Kock C,
Bassier R,
Popel K,
Ndiaye Diallo R,
Wonkam A,
Diallo BK
Genes (Basel)
2023 Feb 23;14(3)
doi: 10.3390/genes14030562.
PMID: 36980833Free PMC Article
Carlson RJ,
Walsh T,
Mandell JB,
Aburayyan A,
Lee MK,
Gulsuner S,
Horn DL,
Ou HC,
Sie KCY,
Mancl L,
Rubinstein J,
King MC
JAMA Otolaryngol Head Neck Surg
2023 Mar 1;149(3):212-222.
doi: 10.1001/jamaoto.2022.4463.
PMID: 36633841Free PMC Article
Vezyroglou A,
Akilapa R,
Barwick K,
Koene S,
Brownstein CA,
Holder-Espinasse M,
Fry AE,
Németh AH,
Tofaris GK,
Hay E,
Hughes I,
Mansour S,
Mordekar SR,
Splitt M,
Turnpenny PD,
Demetriou D,
Koopmann TT,
Ruivenkamp CAL,
Agrawal PB,
Carr L,
Clowes V,
Ghali N,
Holder SE,
Radley J,
Male A,
Sisodiya SM,
Kurian MA,
Cross JH,
Balasubramanian M
Neurology
2022 Oct 4;99(14):e1511-e1526.
Epub 2022 Jul 18
doi: 10.1212/WNL.0000000000200927.
PMID: 36192182Free PMC Article