… of CSTB gene mutations among Egyptian patients clinically … Genotype-phenotype variability
was noted among patients with … carrying compound heterozygous CSTB point and indel …

… for the dodecamer repeat expansion and point mutation c.… on mutations in the CSTB gene
along with clinical presentation … explore genotype–phenotype relationships in Polish patients …

… Electroclinical presentation and genotype-phenotype relationships in patients with
Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel …

… out of CSTB, which display many of the clinical features of … of patients are compound
heterozygous, thus bearing point … or compound heterozygous carrying mutations in the CSTB …

… carry one of the two variants found in the patient, although … Refining the phenotype of
Unverricht-Lundborg disease (EPM1): a … by SCARB2 mutations. Epilepsia. 2011;52(12):2356-63. …

… Unverricht–Lundborg disease, Lafora disease, Batten … were seen in the patient-derived hCOs
with CSTB mutations [9]. … in EPM1 patients; however, the loss of inhibitory control points to …

… Unverricht-Lundborg type (EPM1) is a neurodegenerative disorder caused by loss-of-function
mutations … provide novel insights into the early onset and pathogenesis of CSTB deficiency…

… genotype-phenotype correlations in patients with biallelic CSTB mutations and the phenotype
of Cstb … positive cell populations at the indicated time points in wt and in Cstb −/− cells. The …

… S et al (2012) Electroclinical presentation and genotype-phenotype relationships in patients
with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel …

… to review the electro-clinical features of … Genotype-phenotype correlations may appear
substantial in selected cases (eg, patients with Dravet syndrome caused by SCN1A mutations), …