Publications:

PRRT2-positive self-limited infantile epilepsy: initial seizure characteristics and response to sodium channel blockers.

Epilepsia Open

Lee, Jiwon J; Kim, Young Ok YO; Lim, Byung Chan BC; Lee, Jeehun J

Publication Date: 2023-02-12

Variant appearance in text: PRRT2: 966delG

PubMed Link: 36775847

Variant Present in the following documents:

• Main text
• EPI4-8-436.pdf

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Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy.

Molecular Genetics & Genomic Medicine

Lee, Jiwon J; Lee, Chung C; Ki, Chang-Seok CS; Lee, Jeehun J

Publication Date: 2020-09

Variant appearance in text: PRRT2: 971del

PubMed Link: 32613771

Variant Present in the following documents:

• Main text
• MGG3-8-e1376.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: PRRT2: 971del; Gly324Glufs*13

PubMed Link: 31440721

Variant Present in the following documents:

• EPI4-4-397-s003.xlsx, sheet 1

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Aberrant Sensory Gating of the Primary Somatosensory Cortex Contributes to the Motor Circuit Dysfunction in Paroxysmal Kinesigenic Dyskinesia.

Frontiers In Neurology

Liu, Yo-Tsen YT; Chen, Yi-Chieh YC; Kwan, Shang-Yeong SY; Chou, Chien-Chen CC; Yu, Hsiang-Yu HY; Yen, Der-Jen DJ; Liao, Kwong-Kum KK; Chen, Wei-Ta WT; Lin, Yung-Yang YY; Chen, Rou-Shayn RS; Jih, Kang-Yang KY; Lu, Shu-Fen SF; Wu, Yu-Te YT; Wang, Po-Shan PS; Hsiao, Fu-Jung FJ

Publication Date: 2018

Variant appearance in text: PRRT2: 971delG; Gly324Glufs

PubMed Link: 30386286

Variant Present in the following documents:

• Main text
• fneur-09-00831.pdf

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Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1.

Genome Medicine

Sveen, Anita A; Johannessen, Bjarne B; Tengs, Torstein T; Danielsen, Stine A SA; Eilertsen, Ina A IA; Lind, Guro E GE; Berg, Kaja C G KCG; Leithe, Edward E; Meza-Zepeda, Leonardo A LA; Domingo, Enric E; Myklebost, Ola O; Kerr, David D; Tomlinson, Ian I; Nesbakken, Arild A; Skotheim, Rolf I RI; Lothe, Ragnhild A RA

Publication Date: 2017-05-24

Variant appearance in text: PRRT2: 966delG

PubMed Link: 28539123

Variant Present in the following documents:

• 13073_2017_434_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page