Publications:

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Study of variants in genes implicated in rare familial migraine syndromes and their association with migraine in 200,000 exome-sequenced UK Biobank participants.

Annals Of Human Genetics

Markel, Katherine Alexis KA; Curtis, David D

Publication Date: 2022-11

Variant appearance in text: PRRT2: Glu23Lys

PubMed Link: 36044383

Variant Present in the following documents:

• Main text
• AHG-86-353.pdf

View BVdb publication page

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Genomics and Epigenomics of Gestational Diabetes Mellitus: Understanding the Molecular Pathways of the Disease Pathogenesis.

International Journal Of Molecular Sciences

Abu Samra, Nadia N; Jelinek, Herbert F HF; Alsafar, Habiba H; Asghar, Farah F; Seoud, Muhieddine M; Hussein, Shahad M SM; Mubarak, Hisham M HM; Anwar, Siddiq S; Memon, Mashal M; Afify, Nariman N; Manzoor, Ridda R; Al-Homedi, Zahrah Z; Osman, Wael W

Publication Date: 2022-03-23

Variant appearance in text: PKC: E23K

PubMed Link: 35408874

Variant Present in the following documents:

• ijms-23-03514.pdf

View BVdb publication page

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Comprehensive Exonic Sequencing of Hemiplegic Migraine-Related Genes in a Cohort of Suspected Probands Identifies Known and Potential Pathogenic Variants.

Cells

Sutherland, Heidi G HG; Maksemous, Neven N; Albury, Cassie L CL; Ibrahim, Omar O; Smith, Robert A RA; Lea, Rod A RA; Haupt, Larisa M LM; Jenkins, Bronwyn B; Tsang, Benjamin B; Griffiths, Lyn R LR

Publication Date: 2020-10-28

Variant appearance in text: PRRT2: 67G>A; rs140383655

PubMed Link: 33126486

Variant Present in the following documents:

• Main text
• cells-09-02368.pdf

View BVdb publication page

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Ischemic Heart Disease and Heart Failure: Role of Coronary Ion Channels.

International Journal Of Molecular Sciences

Severino, Paolo P; D'Amato, Andrea A; Pucci, Mariateresa M; Infusino, Fabio F; Birtolo, Lucia Ilaria LI; Mariani, Marco Valerio MV; Lavalle, Carlo C; Maestrini, Viviana V; Mancone, Massimo M; Fedele, Francesco F

Publication Date: 2020-04-30

Variant appearance in text: PKC: E23K

PubMed Link: 32365863

Variant Present in the following documents:

• ijms-21-03167.pdf

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Diabetes Mellitus and Ischemic Heart Disease: The Role of Ion Channels.

International Journal Of Molecular Sciences

Severino, Paolo P; D'Amato, Andrea A; Netti, Lucrezia L; Pucci, Mariateresa M; De Marchis, Marialaura M; Palmirotta, Raffaele R; Volterrani, Maurizio M; Mancone, Massimo M; Fedele, Francesco F

Publication Date: 2018-03-10

Variant appearance in text: PKC: E23K

PubMed Link: 29534462

Variant Present in the following documents:

• Main text
• ijms-19-00802.pdf

View BVdb publication page

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Cardiovascular KATP channels and advanced aging.

Pathobiology Of Aging & Age Related Diseases

Yang, Hua-Qian HQ; Subbotina, Ekaterina E; Ramasamy, Ravichandran R; Coetzee, William A WA

Publication Date: 2016

Variant appearance in text: PKC: E23K

PubMed Link: 27733235

Variant Present in the following documents:

• Main text
• PBA-6-32517.pdf

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: PRRT2: E23K; rs140383655

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 7

View BVdb publication page

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KATP Channels in the Cardiovascular System.

Physiological Reviews

Foster, Monique N MN; Coetzee, William A WA

Publication Date: 2016-01

Variant appearance in text: PKC: E23K

PubMed Link: 26660852

Variant Present in the following documents:

• Main text

View BVdb publication page

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The clinical and genetic heterogeneity of paroxysmal dyskinesias.

Brain : A Journal Of Neurology

Gardiner, Alice R AR; Jaffer, Fatima F; Dale, Russell C RC; Labrum, Robyn R; Erro, Roberto R; Meyer, Esther E; Xiromerisiou, Georgia G; Stamelou, Maria M; Walker, Matthew M; Kullmann, Dimitri D; Warner, Tom T; Jarman, Paul P; Hanna, Mike M; Kurian, Manju A MA; Bhatia, Kailash P KP; Houlden, Henry H

Publication Date: 2015-12

Variant appearance in text: ICCA: E23K

PubMed Link: 26598494

Variant Present in the following documents:

• Main text
• awv310.pdf

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Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.

Bmc Genetics

Maciąg, Anna A; Villa, Francesco F; Ferrario, Anna A; Spinelli, Chiara Carmela CC; Carrizzo, Albino A; Malovini, Alberto A; Torella, Annalaura A; Montenero, Chiara C; Parisi, Attilio A; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale Sandro AS; Puca, Annibale Alessandro AA

Publication Date: 2015-02-11

Variant appearance in text: PRRT2: E23K; rs140383655

PubMed Link: 25888430

Variant Present in the following documents:

• 12863_2015_177_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders.

Plos One

Huguet, Guillaume G; Nava, Caroline C; Lemière, Nathalie N; Patin, Etienne E; Laval, Guillaume G; Ey, Elodie E; Brice, Alexis A; Leboyer, Marion M; Szepetowski, Pierre P; Gillberg, Christopher C; Depienne, Christel C; Delorme, Richard R; Bourgeron, Thomas T

Publication Date: 2014

Variant appearance in text: PRRT2: E23K

PubMed Link: 24594579

Variant Present in the following documents:

• Main text
• pone.0088600.pdf

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The role of ATP-sensitive potassium channels in cellular function and protection in the cardiovascular system.

British Journal Of Pharmacology

Tinker, Andrew A; Aziz, Qadeer Q; Thomas, Alison A

Publication Date: 2014-01

Variant appearance in text: PKC: E23K

PubMed Link: 24102106

Variant Present in the following documents:

• Main text

View BVdb publication page

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Current understanding of K ATP channels in neonatal diseases: focus on insulin secretion disorders.

Acta Pharmacologica Sinica

Quan, Yi Y; Barszczyk, Andrew A; Feng, Zhong-ping ZP; Sun, Hong-shuo HS

Publication Date: 2011-06

Variant appearance in text: PKC: E23K

PubMed Link: 21602835

Variant Present in the following documents:

• Main text

View BVdb publication page

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