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SPTAN1 encephalopathy: distinct phenotypes and genotypes.
Tohyama J, Nakashima M, Nabatame S, Gaik-Siew C, Miyata R, Rener-Primec Z, Kato M, Matsumoto N, Saitsu H. Tohyama J, et al. J Hum Genet. 2015 Apr;60(4):167-73. doi: 10.1038/jhg.2015.5. Epub 2015 Jan 29. J Hum Genet. 2015. PMID: 25631096 Review.
The major clinical features of SPTAN1 mutations include epileptic encephalopathy with hypsarrhythmia, no visual attention, acquired microcephaly, spastic quadriplegia and severe intellectual disability. Brainstem and cerebellar atrophy and cerebral hypomyelination, …
The major clinical features of SPTAN1 mutations include epileptic encephalopathy with hypsarrhythmia, no visual attention, acquired microcep …
Cerebral hypomyelination associated with biallelic variants of FIG4.
Lenk GM, Berry IR, Stutterd CA, Blyth M, Green L, Vadlamani G, Warren D, Craven I, Fanjul-Fernandez M, Rodriguez-Casero V, Lockhart PJ, Vanderver A, Simons C, Gibb S, Sadedin S; Broad Center for Mendelian Genomics; White SM, Christodoulou J, Skibina O, Ruddle J, Tan TY, Leventer RJ, Livingston JH, Meisler MH. Lenk GM, et al. Hum Mutat. 2019 May;40(5):619-630. doi: 10.1002/humu.23720. Epub 2019 Feb 28. Hum Mutat. 2019. PMID: 30740813 Free PMC article.
This mutation in the splice donor site of exon 21 results in read-through from exon 20 into intron 20 and truncation of the final 115 C-terminal amino acids of FIG4, with retention of partial function. The observed CNS white matter disorder in these families is consistent …
This mutation in the splice donor site of exon 21 results in read-through from exon 20 into intron 20 and truncation of the final 115 C-term …
Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter.
Tohyama J, Akasaka N, Osaka H, Maegaki Y, Kato M, Saito N, Yamashita S, Ohno K. Tohyama J, et al. Brain Dev. 2008 May;30(5):349-55. doi: 10.1016/j.braindev.2007.10.006. Epub 2007 Dec 11. Brain Dev. 2008. PMID: 18065176
The group of these findings is mimicking to clinical manifestations of 3-phosphoglycerate dehydrogenase deficiency, and has some overlap with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) like syndrome, however it is not compatible with these two …
The group of these findings is mimicking to clinical manifestations of 3-phosphoglycerate dehydrogenase deficiency, and has some overlap wit …
Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay.
Saitsu H, Tohyama J, Kumada T, Egawa K, Hamada K, Okada I, Mizuguchi T, Osaka H, Miyata R, Furukawa T, Haginoya K, Hoshino H, Goto T, Hachiya Y, Yamagata T, Saitoh S, Nagai T, Nishiyama K, Nishimura A, Miyake N, Komada M, Hayashi K, Hirai S, Ogata K, Kato M, Fukuda A, Matsumoto N. Saitsu H, et al. Am J Hum Genet. 2010 Jun 11;86(6):881-91. doi: 10.1016/j.ajhg.2010.04.013. Epub 2010 May 20. Am J Hum Genet. 2010. PMID: 20493457 Free PMC article.
Transient expression in mouse cortical neurons revealed aggregation of alpha-II (mut)/beta-II and alpha-II (mut)/beta-III spectrin heterodimers, which was also observed in lymphoblastoid cells from two subjects with in-frame mutations. ...
Transient expression in mouse cortical neurons revealed aggregation of alpha-II (mut)/beta-II and alpha-II (mut)/beta-III spectrin heterodim …
yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.
Blanco-Sánchez B, Clément A, Stednitz SJ, Kyle J, Peirce JL, McFadden M, Wegner J, Phillips JB, Macnamara E, Huang Y, Adams DR, Toro C, Gahl WA, Malicdan MCV, Tifft CJ, Zink EM, Bloodsworth KJ, Stratton KG; Undiagnosed Diseases Network; Koeller DM, Metz TO, Washbourne P, Westerfield M. Blanco-Sánchez B, et al. PLoS Genet. 2020 Jun 16;16(6):e1008841. doi: 10.1371/journal.pgen.1008841. eCollection 2020 Jun. PLoS Genet. 2020. PMID: 32544203 Free PMC article.
We identified a child with a constellation of clinical features including cerebral hypomyelination, abnormal peripheral nerve conduction, hypotonia, areflexia, and hypertrophic peripheral nerves. ...Locomotion defects were observed in adult zebrafish ypel3 mu …
We identified a child with a constellation of clinical features including cerebral hypomyelination, abnormal peripheral nerve …
Childhood ataxia with cerebral hypomyelination (CACH) syndrome: a study of three siblings.
Vaidya SR, Desai SB, Khadilkar SV, Mehta NA. Vaidya SR, et al. Neurol India. 2004 Sep;52(3):372-4. Neurol India. 2004. PMID: 15472431 Free article.
We report a family of three siblings with Childhood Ataxia with Cerebral Hypomyelination. All the siblings presented with early onset cerebellar ataxia beginning around five years of age with mild mental retardation. ...The cases are reported for their rarity as wel …
We report a family of three siblings with Childhood Ataxia with Cerebral Hypomyelination. All the siblings presented with earl …