Publications:

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KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses.

Science Advances

Wang, Yalan Y; Cao, Xiaotong X; Liu, Pei P; Zeng, Weijia W; Peng, Rui R; Shi, Qing Q; Feng, Kai K; Zhang, Pingzhao P; Sun, Huiru H; Wang, Chenji C; Wang, Hongyan H

Publication Date: 2022-08-05

Variant appearance in text: KCTD7: T64A

PubMed Link: 35921411

Variant Present in the following documents:

• sciadv.abm5578_sm.pdf

View BVdb publication page

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Genetic Diagnosis in Children with Epilepsy and Developmental Disorders by Targeted Gene Panel Analysis in a Developing Country.

Journal Of Epilepsy Research

Rahman, Md Mizanur MM; Fatema, Kanij K

Publication Date: 2021-06

Variant appearance in text: KCTD7: 190A>G; Thr64Ala

PubMed Link: 34395220

Variant Present in the following documents:

• Main text
• jer-21004.pdf

View BVdb publication page

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Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers.

Molecular Genetics & Genomic Medicine

Kozina, Anastasiya A AA; Okuneva, Elena G EG; Baryshnikova, Natalia V NV; Kondakova, Olga B OB; Nikolaeva, Ekaterina A EA; Fedoniuk, Inessa D ID; Mikhailova, Svetlana V SV; Krasnenko, Anna Y AY; Stetsenko, Ivan F IF; Plotnikov, Nikolay A NA; Klimchuk, Olesia I OI; Popov, Yaroslav V YV; Surkova, Ekaterina I EI; Shatalov, Peter A PA; Rakitko, Alexander S AS; Ilinsky, Valery V VV

Publication Date: 2020-07

Variant appearance in text: CLN14: 190A>G

PubMed Link: 32412666

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.

Jama Network Open

SoRelle, Jeffrey A JA; Pascual, Juan M JM; Gotway, Garrett G; Park, Jason Y JY

Publication Date: 2020-04-01

Variant appearance in text: KCTD7: 190A>G; thr64Ala; rs201296399

PubMed Link: 32347949

Variant Present in the following documents:

• jamanetwopen-3-e203812-s001.pdf

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Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Epilepsia Open

Truty, Rebecca R; Patil, Nila N; Sankar, Raman R; Sullivan, Joseph J; Millichap, John J; Carvill, Gemma G; Entezam, Ali A; Esplin, Edward D ED; Fuller, Amy A; Hogue, Michelle M; Johnson, Britt B; Khouzam, Amirah A; Kobayashi, Yuya Y; Lewis, Rachel R; Nykamp, Keith K; Riethmaier, Darlene D; Westbrook, Jody J; Zeman, Michelle M; Nussbaum, Robert L RL; Aradhya, Swaroop S

Publication Date: 2019-09

Variant appearance in text: KCTD7: 190A>G; Thr64Ala

PubMed Link: 31440721

Variant Present in the following documents:

• EPI4-4-397-s003.xlsx, sheet 1

View BVdb publication page

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Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.

Pediatric Neurology

Butler, Kameryn M KM; da Silva, Cristina C; Alexander, John J JJ; Hegde, Madhuri M; Escayg, Andrew A

Publication Date: 2017-12

Variant appearance in text: KCTD7: 190A>G; Thr64Ala

PubMed Link: 29056246

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: KCTD7: 190A>G; Thr64Ala

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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