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The following term was not found in PubMed: tremor-ataxia-central
Page 1
SPTAN1 encephalopathy: distinct phenotypes and genotypes.
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 aim of this review is to delineate SPTAN1 encephalopathy as a distinct clinical syndrome. To date, a total of seven epileptic patients with four different in-frame SPTAN1 mutations have been identified. ...From these data we suggest that SPTAN1 encephalopathy is a dist …
The aim of this review is to delineate SPTAN1 encephalopathy as a distinct clinical syndrome. To date, a total of seven epileptic pat …
Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping.
Biancheri R, Grossi S, Regis S, Rossi A, Corsolini F, Rossi DP, Cavalli P, Severino M, Filocamo M.
Biancheri R, et al.
Clin Genet. 2014 Mar;85(3):267-72. doi: 10.1111/cge.12154. Epub 2013 May 27.
Clin Genet. 2014.
PMID: 23711321
The affected males showed severe mental retardation, spastic tetraparesis, inability of walking and pes cavus at onset in early infancy. Brain magnetic resonance imaging (MRI) showed hypomyelination and brain atrophy. Nystagmus was never observed. The affected females show …
The affected males showed severe mental retardation, spastic tetraparesis, inability of walking and pes cavus at onset in early infancy. Bra …
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Cerebral folate deficiency and folinic acid treatment in hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) syndrome.
Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S.
Mercimek-Mahmutoglu S, et al.
Tohoku J Exp Med. 2007 Jan;211(1):95-6; author reply 97. doi: 10.1620/tjem.211.95.
Tohoku J Exp Med. 2007.
PMID: 17202777
Free article.
No abstract available.
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