References
- Conroy, J., Allen, N.M., Gorman, K., O'Halloran, E., Shahwan, A., Lynch, B., … King, M.D. (2016). Novel European SLC1A4 variant: Infantile spasms and population ancestry analysis. Journal of Human Genetics, 61, 761–764. doi:10.1038/jhg.2016.44
- Damseh, N., Simonin, A., Jalas, C., Picoraro, J.A., Shaag, A., Cho, M.T., … Edvardson, S. (2015). Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination. Journal of Human Genetics, 52, 541–547. doi:10.1136/jmedgenet-2015-103104
- Heimer, G., Marek-Yagel, D., Eyal, E., Barel, O., Oz Levi D., Hoffmann, C., Ruzzo, E.K., … Ben Zeev B (2015). SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum. Clinical Genetics, 88, 327–235. doi:10.1111/cge.12637
- Kobayashi, Y., Tohyama, J., Kato, M., Akasaka, N., Magara, S., Kawashima, H., … Matsumoto, N. (2016). High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders. Brain and Development, 38, 285–292. doi:10.1016/j.braindev.2015.09.011
- Mencacci, N.E., Kamsteeg, E.J., Nakashima, K., R'Bibo, L., Lynch, D.S., Balint, B., … Bhatia, K.P. (2016). De novo mutations in PDE10A cause childhood-onset chorea with bilateral striatal lesions. American Journal of Human Genetics, 98, 763–771. doi:10.1016/j.ajhg.2016.02.015
- Ohba, C., Shiina, M., Tohyama, J., Haginoya, K., Lerman-Sagie, T., Okamoto, N., … Matsumoto, N. (2015). GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders. Epilepsia, 56, 841–848. doi:10.1111/epi.12987
- Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., … Rehm, H.L. ACMG Laboratory Quality Assurance Committee. (2015). 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 for Molecular Pathology. Genetics in Medicine, 17, 405–424. doi:10.1038/gim.2015.30
- Scheffer, I.E., Berkovic, S., Capovilla, G., Connolly, M.B., French, J., Guilhoto, L., … Zuberi, S.M. (2017). ILAE classification of the epilepsies: Position paper of the ILAE commission for classification and terminology. Epilepsia, 58, 512–521. doi:10.1111/epi.13709
- Srour, M., Hamdan, F.F., Gan-Or, Z., Labuda, D., Nassif, C., Oskoui, M., … Michaud, J.L. (2015). A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly. Clinical Genetics, 88, e1–e4. doi:10.1111/cge.12605
- Tabatabaie, L., Klomp, L.W., Berger, R., & de Koning, T.J. (2010). L-serine synthesis in the central nervous system: A review on serine deficiency disorders. Molecular Genetics and Metabolism, 99, 256–262. doi:10.1016/j.ymgme.2009.10.012
- van der Crabben, S.N., Verhoeven-Duif, N.M., Brilstra, E.H., Van Maldergem, L., Coskun, T., Rubio-Gozalbo, E., … de Koning, T.J. (2013). An update on serine deficiency disorders. Journal of Inherited Metabolic Disease, 36, 613–619. doi:10.1007/s10545-013-9592-4