Aicardi-Goutieres syndrome due to a paternal mosaic IFIH1 mutation

被引：4

作者：

Tuengler, Victoria ^{[1
]}

Doebler-Neumann, Marion ^{[2
]}

Salandin, Michaela ^{[3
]}

Kaufmann, Peter ^{[4
]}

Wolf, Christine ^{[1
]}

Lucas, Nadja ^{[1
]}

Harmuth, Florian ^{[5
]}

Reichbauer, Jennifer ^{[6
,7
,8
]}

Kraegeloh-Mann, Ingeborg ^{[2
]}

Schuele, Rebecca ^{[6
,7
,8
]}

Lee-Kirsch, Min Ae ^{[1
]}

机构：

[1] Tech Univ Dresden, Dept Pediat, Med Fak Carl Gustav Carus, Dresden, Germany

[2] Univ Tubingen, Dept Neuropediat, Tubingen, Germany

[3] Bolzano Reg Hosp, Paediat Dept, Child Neurol & Psychiat Unit, Bolzano, Italy

[4] Bolzano Reg Hosp, Paediat Dept, Child Haematol & Oncol Unit, Bolzano, Italy

[5] Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany

[6] Univ Tubingen, Ctr Neurol, Tubingen, Germany

[7] Univ Tubingen, Hertie Inst Clin Brain Res, Tubingen, Germany

[8] German Ctr Neurodegenerat Dis, Bonn, Germany

来源：

NEUROLOGY-GENETICS | 2020年 / 6卷 / 01期

基金：

欧盟地平线“2020”;

关键词：

D O I：

10.1212/NXG.0000000000000384

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页数：3

共 50 条

[21] Aicardi-Goutieres syndrome in siblings
Koul, R
Chacko, A
Joshi, S
Sankhla, D
JOURNAL OF CHILD NEUROLOGY, 2001, 16 (10) : 759 - 761
[22] Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutieres and Singleton-Merten syndromes
Bursztejn, A. -C.
Briggs, T. A.
Duany, Y. del Toro
Anderson, B. H.
O'Sullivan, J.
Williams, S. G.
Bodemer, C.
Fraitag, S.
Gebhard, F.
Leheup, B.
Lemelle, I.
Oojageer, A.
Raffo, E.
Schmitt, E.
Rice, G. I.
Hur, S.
Crow, Y. J.
BRITISH JOURNAL OF DERMATOLOGY, 2015, 173 (06) : 1505 - 1513
[23] Therapies in Aicardi-Goutieres syndrome
Crow, Y. J.
Vanderver, A.
Orcesi, S.
Kuijpers, T. W.
Rice, G. I.
CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 2014, 175 (01): : 1 - 8
[24] Ruxolitinib in Aicardi-Goutieres syndrome
Mura, Eleonora
Masnada, Silvia
Antonello, Clara
Parazzini, Cecilia
Izzo, Giana
Garau, Jessica
Sproviero, Daisy
Cereda, Cristina
Orcesi, Simona
Veggiotti, Pierangelo
Zuccotti, Gianvincenzo
Dilillo, Dario
Penagini, Francesca
Tonduti, Davide
METABOLIC BRAIN DISEASE, 2021, 36 (05) : 859 - 863
[25] Epilepsy in Aicardi-Goutieres syndrome
Ramantani, Georgia
Maillard, Louis G.
Bast, Thomas
Husain, Ralf A.
Niggemann, Pascal
Kohlhase, Juergen
Hertzberg, Christoph
Ungerath, Kristina
Innes, Micheil A.
Walkenhorst, Hartmut
Bevot, Andrea
von Stuelpnagel, Celina
Thomas, Kara
Niemann, Frank
Ergun, Mehmet Ali
Tacke, Uta
Haeusler, Martin
Ikonomidou, Chrysanthy
Korinthenberg, Rudolf
Lee-Kirsch, Min Ae
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2014, 18 (01) : 30 - 37
[26] Aicardi-Goutieres syndrome (AGS)
Stephenson, John B. P.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2008, 12 (05) : 355 - 358
[27] Treating Aicardi-Goutieres Syndrome
Crow, Yanick
EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 78 - 78
[28] Treatments in Aicardi-Goutieres syndrome
Crow, Yanick J.
Shetty, Jayakara
Livingston, John H.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2020, 62 (01): : 42 - 47
[29] Aicardi-Goutieres Syndrome due to a SAMHD1 Mutation Presenting with Deep White Matter Cysts
Oleksy, Barbara
Mierzewska, Hanna
Tryfon, Jolanta
Wypchlo, Maria
Wasilewska, Krystyna
Zalewska-Miszkurka, Zofia
Ploski, Rafal
Rydzanicz, Malgorzata
Szczepanik, Elzbieta
MOLECULAR SYNDROMOLOGY, 2021, : 132 - 138
[30] A case of Aicardi-Goutieres syndrome caused by TREX1 gene mutation
Chenhan, Zheng
Jun, Shao
Yang, Ding
Linliang, Yin
Xiaowen, Gu
Chunya, Ji
Xuedong, Deng
BMC PREGNANCY AND CHILDBIRTH, 2023, 23 (01)

← 1 2 3 4 5 →