An A to G change resulting in an aspartate to glycine substitution at amino acid 434 (p.D434G) was introduced in exon 10 and a loxP-flanked neomycin selection cassette was inserted downstream of the mutated exon 10. The neomycin selection cassette was removed via flp-mediated recombination. This is a variant identified in a large family of patients with generalized epilepsy and/or paroxysmal nonkinesigenic dyskinesia. (J:337228)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count