JLE

Epileptic Disorders

MENU

ATP6V1B2-related epileptic encephalopathy Volume 22, numéro 3, June 2020

  • [Bauer et al., 2018] Bauer C.K., Calligari P., Radio F.C. Mutations in that affect gating cause a recognizable neurodevelopmental syndrome. Am J Hum Genet. 2018;103:621-630. KCNK4
  • [Bauer et al., 2019] Bauer C.K., Schneeberger P.E., Kortüm F. Gain-of-function mutations in encoding the small conductance Ca(2+)-activated K(+) channel SK3 cause Zimmermann-Laband syndrome. Am J Hum Genet. 2019;104:1139-1157. KCNN3
  • [Bramswig et al., 2015] Bramswig N.C., Ockeloen C.W., Czeschik J.C. ’Splitting versus lumping’: Temple-Baraitser and Zimmermann-Laband syndromes. Hum Genet. 2015;134:1089-1097.
  • [Kortüm et al., 2015] Kortüm F., Caputo V., Bauer C.K. Mutations in and cause Zimmermann-Laband syndrome. Nat Genet. 2015;47:661-667. KCNH1 ATP6V1B2
  • [Marshansky et al., 2014] Marshansky V., Rubinstein J.L., Grüber G. Eukaryotic V-ATPase: novel structural findings and functional insights. Biochim Biophys Acta. 2014;1837:857-879.
  • [Mastrangelo et al., 2016] Mastrangelo M., Scheffer I.E., Bramswig N.C. Epilepsy in related syndromes. Epileptic Disord. 2016;1:123-136. KCNH1-18
  • [Mégarbané et al., 2016] Mégarbané A., Al-Ali R., Choucair N. Temple-Baraitser syndrome and Zimmermann-Laband syndrome: one clinical entity? BMC Med Genet. 2016;10:42. 17
  • [Menendez et al., 2017] Menendez I., Carranza C., Herrera M. Dominant deafness-onychodystrophy syndrome caused by an mutation. Clin Case Rep. 2017;5:376-379. ATP6V1B2
  • [Popp et al., 2017] Popp B., Ekici A.B., Thiel C.T. Exome Pool-Seq in neurodevelopmental disorders. Eur J Hum Genet. 2017;25:1364-1376.
  • [Richards et al., 2015] Richards S., Aziz N., Bale S. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association of Molecular Pathology. Genet Med. 2015;17:405-424.
  • [Shaw et al., 2019] Shaw M., Winczewska-Wiktor A., Badura-Stronka M. EXOME REPORT: novel mutation in segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities. Eur J Med Genet. 2019;23:103799. ATP6V1B2
  • [Yuan et al., 2014] Yuan Y., Zhang J., Chang Q. mutation in impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome. Cell Res. 2014;24:1370-1373. De novo ATP6V1B2
  • [Zhao et al., 2019] Zhao W., Gao X., Qiu S. A subunit of V-ATPases, ATP6V1B2, underlies the pathology of intellectual disability. EBioMedicine. 2019;45:408-421.