Condition: Low CSF 5-methyltetrahydrofolate


rs1555889162 in KCNB1;LOC105372649 gene and Low CSF 5-methyltetrahydrofolate PMID 28252636 2017 The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

PMID 29264397 2017 Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.