Associated Papers
Identification of a TPP1 Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations Update.
Baranzehi T et al.
Journal of Clinical Medicine, 2022
36362641 (PubMed )
Supplement: jcm-11-06415-s001.zip › jcm-1964336-supplementary.pdf
Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis.
Gall K et al.
Plos One, 2021
34469436 (PubMed )
Supplement: pone.0255933.s002.pdf
Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.
SoRelle JA et al.
Jama Network Open, 2020
32347949 (PubMed )
Supplement: jamanetwopen-3-e203812-s001.pdf
Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.
Gardner E et al.
Human Mutation, 2019
Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening.
Kaseniit KE et al.
Clinical Genetics, 2019
31170325 (PubMed )
Supplement: CGE-96-236-s003.pdf
CLN2/TPP1 deficiency: the novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype.
Bessa C et al.
Molecular Genetics and Metabolism, 2008
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