Publications:

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Drosophila carrying epilepsy-associated variants in the vitamin B6 metabolism gene PNPO display allele- and diet-dependent phenotypes.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Chi, Wanhao W; Iyengar, Atulya S R ASR; Fu, Wenqin W; Liu, Wei W; Berg, Abigayle E AE; Wu, Chun-Fang CF; Zhuang, Xiaoxi X

Publication Date: 2022-03-01

Variant appearance in text: PNPO: 98A>T; D33V

PubMed Link: 35217610

Variant Present in the following documents:

• pnas.2115524119.sapp.pdf

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: PNPO: D33V; rs370243877

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

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Characterization of Novel Pathogenic Variants Causing Pyridox(am)ine 5'-Phosphate Oxidase-Dependent Epilepsy.

International Journal Of Molecular Sciences

Barile, Anna A; Mills, Philippa P; di Salvo, Martino L ML; Graziani, Claudio C; Bunik, Victoria V; Clayton, Peter P; Contestabile, Roberto R; Tramonti, Angela A

Publication Date: 2021-11-06

Variant appearance in text: PNPO: D33V; rs370243877

PubMed Link: 34769443

Variant Present in the following documents:

• Main text
• ijms-22-12013.pdf

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Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine

Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL

Publication Date: 2021-09-09

Variant appearance in text: PNPO: D33V

PubMed Link: 34503567

Variant Present in the following documents:

• 13073_2021_964_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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A study of elective genome sequencing and pharmacogenetic testing in an unselected population.

Molecular Genetics & Genomic Medicine

Cochran, Meagan M; East, Kelly K; Greve, Veronica V; Kelly, Melissa M; Kelley, Whitley W; Moore, Troy T; Myers, Richard M RM; Odom, Katherine K; Schroeder, Molly C MC; Bick, David D

Publication Date: 2021-09

Variant appearance in text: PNPO: D33V

PubMed Link: 34313030

Variant Present in the following documents:

• Main text

View BVdb publication page

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A study of elective genome sequencing and pharmacogenetic testing in an unselected population.

Molecular Genetics & Genomic Medicine

Cochran, Meagan M; East, Kelly K; Greve, Veronica V; Kelly, Melissa M; Kelley, Whitley W; Moore, Troy T; Myers, Richard M RM; Odom, Katherine K; Schroeder, Molly C MC; Bick, David D

Publication Date: 2021-09

Variant appearance in text: PNPO: D33V

PubMed Link: 34313030

Variant Present in the following documents:

• Main text

View BVdb publication page

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Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency.

Clinical Genetics

Alghamdi, Malak M; Bashiri, Fahad A FA; Abdelhakim, Marwa M; Adly, Nouran N; Jamjoom, Dima Z DZ; Sumaily, Khalid M KM; Alghanem, Bandar B; Arold, Stefan T ST

Publication Date: 2021-01

Variant appearance in text: PNPO: D33V

PubMed Link: 32888189

Variant Present in the following documents:

• Main text
• CGE-99-99.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: PNPO: 98A>T; Asp33Val

PubMed Link: 31440721

Variant Present in the following documents:

• EPI4-4-397-s003.xlsx, sheet 1

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: PNPO: D33V

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy.

Analytical Chemistry

Wilson, Matthew P MP; Footitt, Emma J EJ; Papandreou, Apostolos A; Uudelepp, Mari-Liis ML; Pressler, Ronit R; Stevenson, Danielle C DC; Gabriel, Camila C; McSweeney, Mel M; Baggot, Matthew M; Burke, Derek D; Stödberg, Tommy T; Riney, Kate K; Schiff, Manuel M; Heales, Simon J R SJR; Mills, Kevin A KA; Gissen, Paul P; Clayton, Peter T PT; Mills, Philippa B PB

Publication Date: 2017-09-05

Variant appearance in text: PNPO: D33V

PubMed Link: 28782931

Variant Present in the following documents:

• ac7b01358_si_001.pdf

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Genetic polymorphisms and their association with brain and behavioural measures in heterogeneous stock mice.

Scientific Reports

Janecka, Magdalena M; Marzi, Sarah J SJ; Parsons, Michael J MJ; Liu, Lin L; Paya-Cano, Jose L JL; Smith, Rebecca G RG; Fernandes, Cathy C; Schalkwyk, Leonard C LC

Publication Date: 2017-02-01

Variant appearance in text: rs370243877

PubMed Link: 28145470

Variant Present in the following documents:

• Main text
• srep41204.pdf

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Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.

Molecular Syndromology

Møller, Rikke S RS; Larsen, Line H G LH; Johannesen, Katrine M KM; Talvik, Inga I; Talvik, Tiina T; Vaher, Ulvi U; Miranda, Maria J MJ; Farooq, Muhammad M; Nielsen, Jens E K JE; Svendsen, Lene Lavard LL; Kjelgaard, Ditte B DB; Linnet, Karen M KM; Hao, Qin Q; Uldall, Peter P; Frangu, Mimoza M; Tommerup, Niels N; Baig, Shahid M SM; Abdullah, Uzma U; Born, Alfred P AP; Gellert, Pia P; Nikanorova, Marina M; Olofsson, Kern K; Jepsen, Birgit B; Marjanovic, Dragan D; Al-Zehhawi, Lana I K LI; Peñalva, Sofia J SJ; Krag-Olsen, Bente B; Brusgaard, Klaus K; Hjalgrim, Helle H; Rubboli, Guido G; Pal, Deb K DK; Dahl, Hans A HA

Publication Date: 2016-09

Variant appearance in text: PNPO: 98A>T; Asp33Val

PubMed Link: 27781031

Variant Present in the following documents:

• Main text

View BVdb publication page

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Normal Neurodevelopmental Outcomes in PNPO Deficiency: A Case Series and Literature Review.

Jimd Reports

Hatch, J J; Coman, D D; Clayton, P P; Mills, P P; Calvert, S S; Webster, R I RI; Riney, Kate K

Publication Date: 2016

Variant appearance in text: PNPO: 98A>T; D33V

PubMed Link: 26303608

Variant Present in the following documents:

• Main text

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Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy.

Jimd Reports

Levtova, Alina A; Camuzeaux, Stephane S; Laberge, Anne-Marie AM; Allard, Pierre P; Brunel-Guitton, Catherine C; Diadori, Paola P; Rossignol, Elsa E; Hyland, Keith K; Clayton, Peter T PT; Mills, Philippa B PB; Mitchell, Grant A GA

Publication Date: 2015

Variant appearance in text: PNPO: D33V

PubMed Link: 25762494

Variant Present in the following documents:

• Main text

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Cirrhosis associated with pyridoxal 5'-phosphate treatment of pyridoxamine 5'-phosphate oxidase deficiency.

Jimd Reports

Sudarsanam, Annapurna A; Singh, Harry H; Wilcken, Bridget B; Stormon, Michael M; Arbuckle, Susan S; Schmitt, Bernhard B; Clayton, Peter P; Earl, John J; Webster, Richard R

Publication Date: 2014

Variant appearance in text: PNPO: 98A>T; D33V

PubMed Link: 25256445

Variant Present in the following documents:

• Main text

View BVdb publication page

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Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.

Brain : A Journal Of Neurology

Mills, Philippa B PB; Camuzeaux, Stephane S M SS; Footitt, Emma J EJ; Mills, Kevin A KA; Gissen, Paul P; Fisher, Laura L; Das, Krishna B KB; Varadkar, Sophia M SM; Zuberi, Sameer S; McWilliam, Robert R; Stödberg, Tommy T; Plecko, Barbara B; Baumgartner, Matthias R MR; Maier, Oliver O; Calvert, Sophie S; Riney, Kate K; Wolf, Nicole I NI; Livingston, John H JH; Bala, Pronab P; Morel, Chantal F CF; Feillet, François F; Raimondi, Francesco F; Del Giudice, Ennio E; Chong, W Kling WK; Pitt, Matthew M; Clayton, Peter T PT

Publication Date: 2014-05

Variant appearance in text: PNPO: D33V

PubMed Link: 24645144

Variant Present in the following documents:

• Main text
• awu051.pdf

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