Mutations in 516 epileptic encephalopathies associated genes

Mutations in 1089 epilepsy and epileptic syndromes associated genes

Mutations in 661 genes associated with ataxia and syndromes and diseases, which include symptoms of ataxia

Mutations in 3123 genes associated with intellectual deficit and neuropsychiatric retardation

Mutations in 1131 autistic associated genes

Mutations in 1360 genes associated with chorea, dystonia and other movement disorders

Mutations in 2938 genes associated with childhood onset leukodystrophy

Mutations in 232 genes associated with leukodystrophy with brain calcifications

Mutations in 84 genes associated with late-onset leukodystrophy

Mutations in panel of 1012 genes

Mutations in panel of 212 genes

Mutations in 5227 genes associated with hereditary diseases

Sequencing of 19 396 RefSeq genes. Read depth: mean coverage >= 50X, guaranteed 85% of bases with quality score >=Q30