PMC Links for Nucleotide (Select 1676318088) - PMC - NCBI

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Items: 5

Select item 17159811.

Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16.

P Szepetowski, J Rochette, P Berquin, C Piussan, G M Lathrop, A P Monaco

Am J Hum Genet. 1997 Oct; 61(4): 889–898. doi: 10.1086/514877

PMCID:: PMC1715981

Summary Page Browse PDF–1.5M

Select item 12883802.

Paroxysmal Kinesigenic Choreoathetosis Locus Maps to Chromosome 16p11.2-q12.1

Hiro-aki Tomita, Shinichiro Nagamitsu, Keiko Wakui, Yoshimitsu Fukushima, Koki Yamada, Miyuki Sadamatsu, Akira Masui, Tohru Konishi, Toyojiro Matsuishi, Masao Aihara, Katsunori Shimizu, Kiyoshi Hashimoto, Mari Mineta, Michihito Matsushima, Takahiro Tsujita, Masaaki Saito, Hajime Tanaka, Shoji Tsuji, Toshihisa Takagi, Yusuke Nakamura, Shinichiro Nanko, Nobumasa Kato, Yoshibumi Nakane, Norio Niikawa

Am J Hum Genet. 1999 Dec; 65(6): 1688–1697. Published online 1999 Nov 18. doi: 10.1086/302682

PMCID:: PMC1288380

Abstract Article PDF–405K

Select item 67532183.

Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life

Se Song Jang, Soo Yeon Kim, Hunmin Kim, Hee Hwang, Jong Hee Chae, Ki Joong Kim, Jong-Il Kim, Byung Chan Lim

Front Neurol. 2019; 10: 988. Published online 2019 Sep 13. doi: 10.3389/fneur.2019.00988

PMCID:: PMC6753218

Abstract Article PDF–761K

Select item 57937754.

A novel PRRT2 pathogenic variant in a family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures

Jacqueline G. Lu, Juliet Bishop, Sarah Cheyette, Igor B. Zhulin, Su Guo, Nara Sobreira, Steven E. Brenner

Cold Spring Harb Mol Case Stud. 2018 Feb; 4(1): a002287. doi: 10.1101/mcs.a002287

PMCID:: PMC5793775

Abstract Article PDF–8.5M

Select item 48657375.

Novel Locus for Paroxysmal Kinesigenic Dyskinesia Mapped to Chromosome 3q28-29

Ding Liu, Yumiao Zhang, Yu Wang, Chanjuan Chen, Xin Li, Jinxia Zhou, Zhi Song, Bo Xiao, Kevin Rasco, Feng Zhang, Shu Wen, Guoliang Li

Sci Rep. 2016; 6: 25790. Published online 2016 May 13. doi: 10.1038/srep25790

PMCID:: PMC4865737

Abstract Article PDF–635K

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PMC Links for Nucleotide (Select 1676318088) (5)
PMC
OMIM for MedGen (Select 371336) (1)
OMIM
beta-parvin isoform X7 [Homo sapiens]
beta-parvin isoform X7 [Homo sapiens]
gi|2217339644|ref|XP_047297307.1|

Protein

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