HIGHLIGHTS
- who: . and colleagues from the al-Qura University, Saudi Arabia have published the research work: Identi fi cation of two rare variants in two Chinese families with familial focal epilepsy with variable foci 3: NGS analysis with literature review, in the Journal: (JOURNAL)
- what: In the present study, two patients with truncated NPRL3 variants in family E1 also showed no abnormalities in brain MRIs.
SUMMARY
Familial focal epilepsy with variable foci (FFEVF) is considered one of the most common forms of autosomal dominant epilepsy caused by mutations in the DEP domain . . .
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