PRJNA672777
First Case Report of Cerebral Folate Deficiency Caused by a Novel Mutation of FOLR1 gene in a Chinese Patient
One novel variation of FOLR1 was firstly identified from a Chinese male patient with tonic-clonic seizures, developmental delay, and ataxia. The WES and laboratory results elucidated the etiology of the symptoms. Clinical outcomes were improved by early diagnosis and proper treatment.