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Karin Kojima

Explore the profile of Karin Kojima including associated specialties, affiliations and a list of published articles. Areas
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Articles 16
Citations 179
Followers 0
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Recent Articles
11.
Kojima K, Shirai K, Kobayashi M, Miyauchi A, Saitsu H, Matsumoto N, et al.
Brain Dev . 2017 Jul; 40(1):69-73. PMID: 28687180
Background: The potassium voltage-gated channel subfamily Q member 2 (KCNQ2) gene has been reported to be associated with various types of epilepsy, including benign familial neonatal seizure (BFNS), early infantile...
12.
Kojima K, Anzai R, Ohba C, Goto T, Miyauchi A, Thony B, et al.
Brain Dev . 2016 Jul; 38(10):959-963. PMID: 27371992
Background: Aromatic l-amino acid decarboxylase (AADC) deficiency is an autosomal recessive disorder, caused by defects in the DDC gene. AADC catalyzes the synthesis of the neurotransmitters dopamine and serotonin from...
13.
Yang Z, Matsumoto A, Nakayama K, Jimbo E, Kojima K, Nagata K, et al.
Brain Dev . 2015 May; 38(1):91-9. PMID: 25957987
Background: The genetic background of autism spectrum disorder (ASD) is considered a multi-genetic disorder with high heritability. Autistic children present with a higher prevalence of sleep disorders than has been...
14.
Fujita-Jimbo E, Tanabe Y, Yu Z, Kojima K, Mori M, Li H, et al.
Mol Autism . 2015 Mar; 6:17. PMID: 25780553
Background: Autism spectrum disorder (ASD) has a complex genetic etiology. Some symptoms and mutated genes, including neuroligin (NLGN), neurexin (NRXN), and SH3 and multiple ankyrin repeat domains protein (SHANK), are...
15.
Matsumoto A, Kuwajima M, Miyake K, Kojima K, Nakashima N, Jimbo E, et al.
J Hum Genet . 2013 Aug; 58(11):755-7. PMID: 23985797
The ribosomal protein S6 kinase, 90 kb, polypeptide 3 gene (RPS6KA3) is responsible for Coffin-Lowry syndrome (CLS), which is characterized by intellectual disability (ID) and facial and bony abnormalities. This...
16.
Kojima K, Takahashi N, Yada Y, Koike Y, Matano M, Kono Y, et al.
Pediatr Int . 2012 May; 54(3):409-12. PMID: 22631569
No abstract available.