KEGG   VARIANT: 23025v1
Entry
23025v1                      Variant                               
Name
UNC13A mutation
Type
Loss of function
Gene
UNC13A  unc-13 homolog A [KO:K15293]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 609894
Network
nt06541  Cytoskeleton in neurons
Disease
H03026  Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech
H03028  Intellectual development disorder with seizures and dysmorphic facies
Reference
  Authors
Asadollahi R, Ahmad A, Boonsawat P, Shahanoor Hinzen J, Lohse M, Bouazza-Arostegui B, Sun S, Utesch T, Sommer JD, Ilic D, Padmanarayana M, Fischermanns K, Ranjan M, Boll M, Ka C, Piton A, Mattioli F, Isidor B, Ounap K, Reinson K, Wojcik MH, Marshall CR, Mercimek-Andrews S, Matsumoto N, Miyake N, Stephan BO, Honjo RS, Bertola DR, Kim CA, Yusupov R, Mefford HC, Christodoulou J, Lee J, Heath O, Brown NJ, Baker N, Stark Z, Delatycki M, Lake NJ, Zeidler S, Zuurbier L, Maas SM, de Kruiff CC, Rajabi F, Rodan LH, Coury SA, Platzer K, Oppermann H, Abou Jamra R, Beblo S, Maxton C, Smigiel R, Underhill H, Dubbs H, Rosen A, Helbig KL, Helbig I, Ruggiero SM, Fitzgerald MP, Kraemer D, Prada CE, Tenney J, Jayakar P, Redon S, Lefranc J, Uguen K, Race S, Efthymiou S, Maroofian R, Houlden H, Coppens S, Deconinck N, Ashokkumar B, Varalakshmi P, Gowda K VR, Eghbal F, Ghayoor Karimiani E, Heidari M, Neidhardt J, Owczarek-Lipska M, Korenke GC, Bamshad MJ, Campeau PM, Lehman A, Hendon LG, Wentzensen IM, Monaghan KG, Chen Y, Szuto A, Cohn RD, Au PYB, Hubner C, Boschann F, Manickam K, Koboldt DC, Rad A, Oprea G, Bachman KK, Seeley AH, Agolini E, Terracciano A, Carmelo P, Bupp C, Grysko B, Rein-Rothschild A, Ben Zeev B, Margolin A, Morrison J, Dagli A, Stolerman E, Louie RJ, Washington C, Stevens SJC, Heijligers M, Alkuraya FS, Lisfeld J, Neu A, Paoli Monteiro F, Santos Pessoa AL, Camelo-Filho AE, Kok F, Koeberl D, Riley K, Burglen L, Doummar D, Heron B, Mignot C, Keren B, Charles P, Nava C, Bernhard FP, Kuhn AA, Thoms S, Morrie RD, Mekhoubad S, Green EM, Barmada SJ, Gitler AD, Jahn O, Rhee JS, Rosenmund C, Mitkovski M, Sticht H, Sun H, Le Gac G, Taschenberger H, Brose N, Dittman JS, Rauch A, Lipstein N
  Title
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
  Journal
Nat Genet 57:2691-2704 (2025)
DOI:10.1038/s41588-025-02361-5
Reference
  Authors
Engel AG, Selcen D, Shen XM, Milone M, Harper CM
  Title
Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia.
  Journal
Neurol Genet 2:e105 (2016)
DOI:10.1212/NXG.0000000000000105
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