KEGG   VARIANT: 6709v1
Entry
6709v1                      Variant                                
Name
SPTAN1 mutation
Type
Loss of function
Gene
SPTAN1  spectrin alpha, non-erythrocytic 1 [KO:K06114]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 182810
Network
nt06541  Cytoskeleton in neurons
Disease
H00266  Hereditary spastic paraplegia
H00606  Early infantile epileptic encephalopathy
H00856  Distal hereditary motor neuropathies
Reference
  Authors
Tohyama J, Nakashima M, Nabatame S, Gaik-Siew C, Miyata R, Rener-Primec Z, Kato M, Matsumoto N, Saitsu H
  Title
SPTAN1 encephalopathy: distinct phenotypes and genotypes.
  Journal
J Hum Genet 60:167-73 (2015)
DOI:10.1038/jhg.2015.5
Reference
  Authors
Morsy H, Benkirane M, Cali E, Rocca C, Zhelcheska K, Cipriani V, Galanaki E, Maroofian R, Efthymiou S, Murphy D, O'Driscoll M, Suri M, Banka S, Clayton-Smith J, Wright T, Redman M, Bassetti JA, Nizon M, Cogne B, Jamra RA, Bartolomaeus T, Heruth M, Krey I, Gburek-Augustat J, Wieczorek D, Gattermann F, Mcentagart M, Goldenberg A, Guyant-Marechal L, Garcia-Moreno H, Giunti P, Chabrol B, Bacrot S, Buissonniere R, Magry V, Gowda VK, Srinivasan VM, Melegh B, Szabo A, Sumegi K, Cossee M, Ziff M, Butterfield R, Hunt D, Bird-Lieberman G, Hanna M, Koenig M, Stankewich M, Vandrovcova J, Houlden H
  Title
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
  Journal
Genet Med 25:76-89 (2023)
DOI:10.1016/j.gim.2022.09.013
Reference
  Authors
Beijer D, Deconinck T, De Bleecker JL, Dotti MT, Malandrini A, Urtizberea JA, Zulaica M, Lopez de Munain A, Asselbergh B, De Jonghe P, Baets J
  Title
Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy.
  Journal
Brain 142:2605-2616 (2019)
DOI:10.1093/brain/awz216
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