REFERENCES
BORCK, G., SHIN, B. S., STILLER, B., MIMOUNI-BLOCH, A., THIELE, H., KIM, J. R., THAKUR, M., SKINNER, C., ASCHENBACH, L., SMIRIN-YOSEF, P., HAR-ZAHAV, A., NURNBERG, G., ALTMULLER, J., FROMMOLT, P., HOFMANN, K., KONEN, O., NURNBERG, P., MUNNICH, A., SCHWARTZ, C. E., GOTHELF, D., COLLEAUX, L., DEVER, T. E., KUBISCH, C. & BASEL-VANAGAITE, L. 2012. eIF2gamma mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation. Mol Cell, 48, 641-6.
GREGORY, L. C., FERREIRA, C. B., YOUNG-BAIRD, S. K., WILLIAMS, H. J., HARAKALOVA, M., VAN HAAFTEN, G., RAHMAN, S. A., GASTON-MASSUET, C., KELBERMAN, D., GOSGENE, QASIM, W., CAMPER, S. A., DEVER, T. E., SHAH, P., ROBINSON, I. & DATTANI, M. T. 2019. Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation. EBioMedicine, 42, 470-480.
KOTZAERIDOU, U., YOUNG-BAIRD, S. K., SUCKOW, V., THORNBURG, A. G., WAGNER, M., HARTING, I., CHRIST, S., STROM, T., DEVER, T. E. & KALSCHEUER, V. M. 2020. Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2gamma translational function, and literature review. Clin Genet,98, 507-514.
MOORTGAT, S., DESIR, J., BENOIT, V., BOULANGER, S., PENDEVILLE, H., NASSOGNE, M. C., LEDERER, D. & MAYSTADT, I. 2016. Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy. Am J Med Genet A,170, 2927-2933.
SKOPKOVA, M., HENNIG, F., SHIN, B. S., TURNER, C. E., STANIKOVA, D., BRENNEROVA, K., STANIK, J., FISCHER, U., HENDEN, L., MULLER, U., STEINBERGER, D., LESHINSKY-SILVER, E., BOTTANI, A., KURDIOVA, T., UKROPEC, J., NYITRAYOVA, O., KOLNIKOVA, M., KLIMES, I., BORCK, G., BAHLO, M., HAAS, S. A., KIM, J. R., LOTSPEICH-COLE, L. E., GASPERIKOVA, D., DEVER, T. E. & KALSCHEUER, V. M. 2017. EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. Hum Mutat, 38, 409-425.
STANIK, J., SKOPKOVA, M., STANIKOVA, D., BRENNEROVA, K., BARAK, L., TICHA, L., HORNOVA, J., KLIMES, I. & GASPERIKOVA, D. 2018. Neonatal hypoglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome. Physiol Res,67, 331-337.
STEINMULLER, R., STEINBERGER, D. & MULLER, U. 1998. MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to xp21.1-p22.13. Eur J Hum Genet, 6, 201-6.
THAM, E., LINDSTRAND, A., SANTANI, A., MALMGREN, H., NESBITT, A., DUBBS, H. A., ZACKAI, E. H., PARKER, M. J., MILLAN, F., ROSENBAUM, K., WILSON, G. N. & NORDGREN, A. 2015. Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. Am J Hum Genet, 96, 507-13.
YAHIRO, T., KATAOKA, N., NAKAMURA, Y. & NAKAMURA, K. 2017. The lateral parabrachial nucleus, but not the thalamus, mediates thermosensory pathways for behavioural thermoregulation. Sci Rep, 7,5031.
YOUNG-BAIRD, S. K., LOURENCO, M. B., ELDER, M. K., KLANN, E., LIEBAU, S. & DEVER, T. E. 2020. Suppression of MEHMO Syndrome Mutation in eIF2 by Small Molecule ISRIB. Mol Cell, 77, 875-886 e7.