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Select item 54737151.

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination

Viorica Chelban, Nisha Patel, Jana Vandrovcova, M. Natalia Zanetti, David S. Lynch, Mina Ryten, Juan A. Botía, Oscar Bello, Eloise Tribollet, Stephanie Efthymiou, Indran Davagnanam, SYNAPSE Study Group, Fahad A. Bashiri, Nicholas W. Wood, James E. Rothman, Fowzan S. Alkuraya, Henry Houlden

Am J Hum Genet. 2017 Jun 1; 100(6): 969–977. Published online 2017 Jun 1. doi: 10.1016/j.ajhg.2017.05.009

PMCID:: PMC5473715

Abstract Article PDF–1.9M

Select item 68211842.

Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia

Frédéric M Vaz, John H McDermott, Mariëlle Alders, Saskia B Wortmann, Stefan Kölker, Mia L Pras-Raves, Martin A T Vervaart, Henk van Lenthe, Angela C M Luyf, Hyung L Elfrink, Kay Metcalfe, Sara Cuvertino, Peter E Clayton, Rebecca Yarwood, Martin P Lowe, Simon Lovell, Richard C Rogers, Deciphering Developmental Disorders Study, Antoine H C van Kampen, Jos P N Ruiter, Ronald J A Wanders, Sacha Ferdinandusse, Michel van Weeghel, Marc Engelen, Siddharth Banka

Brain. 2019 Nov; 142(11): 3382–3397. Published online 2019 Oct 22. doi: 10.1093/brain/awz291

PMCID:: PMC6821184

Abstract Article PDF–1.4M

Select item 67889513.

Longitudinal MRI findings in patient with SLC25A12 pathogenic variants inform disease progression and classification

Brian C. Kavanaugh, Emily B. Warren, Ozan Baytas, Michael Schmidt, Derek Merck, Karen Buch, Judy S. Liu, Chanika Phornphutkul, Paul Caruso, Eric M. Morrow

Am J Med Genet A. Author manuscript; available in PMC 2020 Nov 1.

Published in final edited form as: Am J Med Genet A. 2019 Nov; 179(11): 2284–2291. Published online 2019 Aug 12. doi: 10.1002/ajmg.a.61322

PMCID:: PMC6788951

Abstract Article PDF–561K

Select item 112929054.

The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders

Jai Sidpra, Sniya Sudhakar, Asthik Biswas, Flavia Massey, Valentina Turchetti, Tracy Lau, Edward Cook, Javeria Raza Alvi, Hasnaa M Elbendary, Jerry L Jewell, Antonella Riva, Alessandro Orsini, Aglaia Vignoli, Zara Federico, Jessica Rosenblum, An-Sofie Schoonjans, Matthias de Wachter, Ignacio Delgado Alvarez, Ana Felipe-Rucián, Nourelhoda A Haridy, Shahzad Haider, Mashaya Zaman, Selina Banu, Najwa Anwaar, Fatima Rahman, Shazia Maqbool, Rashmi Yadav, Vincenzo Salpietro, Reza Maroofian, Rajan Patel, Rupa Radhakrishnan, Sanjay P Prabhu, Klaske Lichtenbelt, Helen Stewart, Yoshiko Murakami, Ulrike Löbel, Felice D’Arco, Emma Wakeling, Wendy Jones, Eleanor Hay, Sanjay Bhate, Thomas S Jacques, David M Mirsky, Matthew T Whitehead, Maha S Zaki, Tipu Sultan, Pasquale Striano, Anna C Jansen, Maarten Lequin, Linda S de Vries, Mariasavina Severino, Andrew C Edmondson, Lara Menzies, Philippe M Campeau, Henry Houlden, Amy McTague, Stephanie Efthymiou, Kshitij Mankad

Brain. 2024 Aug; 147(8): 2775–2790. Published online 2024 Mar 8. doi: 10.1093/brain/awae056

PMCID:: PMC11292905

Abstract Article PDF–1.1M

Select item 62484095.

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy

Steffen Syrbe, Frederike L Harms, Elena Parrini, Martino Montomoli, Ulrike Mütze, Katherine L Helbig, Tilman Polster, Beate Albrecht, Ulrich Bernbeck, Ellen van Binsbergen, Saskia Biskup, Lydie Burglen, Jonas Denecke, Bénédicte Heron, Henrike O Heyne, Georg F Hoffmann, Frauke Hornemann, Takeshi Matsushige, Ryuki Matsuura, Mitsuhiro Kato, G Christoph Korenke, Alma Kuechler, Constanze Lämmer, Andreas Merkenschlager, Cyril Mignot, Susanne Ruf, Mitsuko Nakashima, Hirotomo Saitsu, Hannah Stamberger, Tiziana Pisano, Jun Tohyama, Sarah Weckhuysen, Wendy Werckx, Julia Wickert, Francesco Mari, Nienke E Verbeek, Rikke S Møller, Bobby Koeleman, Naomichi Matsumoto, William B Dobyns, Domenica Battaglia, Johannes R Lemke, Kerstin Kutsche, Renzo Guerrini

Brain. 2017 Sep; 140(9): 2322–2336. Published online 2017 Aug 24. doi: 10.1093/brain/awx195

PMCID:: PMC6248409

Abstract Article PDF–741K

Select item 60807646.

Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome

Martin W. Breuss, An Nguyen, Qiong Song, Thai Nguyen, Valentina Stanley, Kiely N. James, Damir Musaev, Guoliang Chai, Sara A. Wirth, Paula Anzenberg, Renee D. George, Anide Johansen, Shaila Ali, Muhammad Zia-ur-Rehman, Tipu Sultan, Maha S. Zaki, Joseph G. Gleeson

Am J Hum Genet. 2018 Aug 2; 103(2): 296–304. Published online 2018 Jul 19. doi: 10.1016/j.ajhg.2018.06.011

PMCID:: PMC6080764

Abstract Article PDF–2.4M

Select item 58325997.

Characterization of a Novel Variant in Siblings with Asparagine Synthetase Deficiency

Stephanie J. Sacharow, Elizabeth E. Dudenhausen, Carrie L. Lomelino, Lance Rodan, Christelle Moufawad El Achkar, Heather E. Olson, Casie A Genetti, Pankaj B. Agrawal, Robert McKenna, Michael S. Kilberg

Mol Genet Metab. Author manuscript; available in PMC 2019 Mar 1.

Published in final edited form as: Mol Genet Metab. 2018 Mar; 123(3): 317–325. Published online 2017 Dec 20. doi: 10.1016/j.ymgme.2017.12.433

PMCID:: PMC5832599

Abstract Article PDF–944K

Select item 57806018.

Syndrome of X linked intellectual disability, epilepsy, progressive brain atrophy and large head associated with SLC9A6 mutation

Hansashree Padmanabha, Arushi Gahlot Saini, Jitendra Kumar Sahu, Pratibha Singhi

BMJ Case Rep. 2017; 2017: bcr2017222050. Published online 2017 Dec 22. doi: 10.1136/bcr-2017-222050

PMCID:: PMC5780601

Abstract Article PDF–420K

Select item 56736669.

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia

Thi Tuyet Mai Nguyen, Yoshiko Murakami, Eamonn Sheridan, Sophie Ehresmann, Justine Rousseau, Anik St-Denis, Guoliang Chai, Norbert F. Ajeawung, Laura Fairbrother, Tyler Reimschisel, Alexandra Bateman, Elizabeth Berry-Kravis, Fan Xia, Jessica Tardif, David A. Parry, Clare V. Logan, Christine Diggle, Christopher P. Bennett, Louise Hattingh, Jill A. Rosenfeld, Michael Scott Perry, Michael J. Parker, Françoise Le Deist, Maha S. Zaki, Erika Ignatius, Pirjo Isohanni, Tuula Lönnqvist, Christopher J. Carroll, Colin A. Johnson, Joseph G. Gleeson, Taroh Kinoshita, Philippe M. Campeau

Am J Hum Genet. 2017 Nov 2; 101(5): 856–865. Published online 2017 Nov 2. doi: 10.1016/j.ajhg.2017.09.020

PMCID:: PMC5673666

Abstract Article PDF–1.9M

Select item 566901610.

Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia

Conceição Bettencourt, Vincenzo Salpietro, Stephanie Efthymiou, Viorica Chelban, Deborah Hughes, Alan M. Pittman, Monica Federoff, Thomas Bourinaris, Martha Spilioti, Georgia Deretzi, Triantafyllia Kalantzakou, Henry Houlden, Andrew B. Singleton, Georgia Xiromerisiou

Orphanet J Rare Dis. 2017; 12: 172. Published online 2017 Nov 2. doi: 10.1186/s13023-017-0721-2

PMCID:: PMC5669016

Abstract Article PDF–4.7M

Select item 562496011.

Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene

Chong Kun Cheon, So-Hee Lim, Yoo-Mi Kim, Doyoun Kim, Na-Yoon Lee, Tae-Sung Yoon, Nam-Soon Kim, Eunjoon Kim, Jae-Ran Lee

Sci Rep. 2017; 7: 12527. Published online 2017 Oct 2. doi: 10.1038/s41598-017-12999-9

PMCID:: PMC5624960

Abstract Article PDF–6.5M

Select item 553288212.

BRAT1 Mutations Present with a Spectrum of Clinical Severity

Siddharth Srivastava, Heather E. Olson, Julie S. Cohen, Cynthia S. Gubbels, Sharyn Lincoln, Brigette Tippin Davis, Layla Shahmirzadi, Siddharth Gupta, Jonathan Picker, Timothy W. Yu, David T. Miller, Janet S. Soul, Andrea Poretti, SakkuBai Naidu

Am J Med Genet A. Author manuscript; available in PMC 2017 Sep 1.

Published in final edited form as: Am J Med Genet A. 2016 Sep; 170(9): 2265–2273. Published online 2016 Jun 9. doi: 10.1002/ajmg.a.37783

PMCID:: PMC5532882

Abstract Article PDF–1.6M

Select item 551568413.

Increased Survival and Partly Preserved Cognition in a Patient with ACO2-Related Disease Secondary to a Novel Variant

Siddharth Srivastava, Cynthia S. Gubbels, Kira Dies, Anne Fulton, Timothy Yu, Mustafa Sahin

J Child Neurol. Author manuscript; available in PMC 2018 Aug 1.

Published in final edited form as: J Child Neurol. 2017 Aug; 32(9): 840–845. Published online 2017 May 25. doi: 10.1177/0883073817711527

PMCID:: PMC5515684

Abstract Article PDF–714K

Select item 547736714.

Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB

Alan O'Brien, Christian R Marshall, Susan Blaser, Peter N Ray, Grace Yoon

Eur J Hum Genet. 2017 Jun; 25(6): 775–778. Published online 2017 Apr 5. doi: 10.1038/ejhg.2017.39

PMCID:: PMC5477367

Abstract Article PDF–2.1M

Select item 668766115.

A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination

Sachiko Miyamoto, Mitsuko Nakashima, Tsukasa Ohashi, Takuya Hiraide, Kenji Kurosawa, Toshiyuki Yamamoto, Junichi Takanashi, Hitoshi Osaka, Ken Inoue, Takehiro Miyazaki, Yoshinao Wada, Nobuhiko Okamoto, Hirotomo Saitsu

Mol Genet Genomic Med. 2019 Aug; 7(8): e814. Published online 2019 Jun 23. doi: 10.1002/mgg3.814

PMCID:: PMC6687661

Abstract Article PDF–1.1M

Select item 541495416.

A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking

Swati Khare, Jerelyn A. Nick, Yalan Zhang, Kira Galeano, Brittany Butler, Habibeh Khoshbouei, Sruti Rayaprolu, Tyisha Hathorn, Laura P. W. Ranum, Lisa Smithson, Todd E. Golde, Martin Paucar, Richard Morse, Michael Raff, Julie Simon, Magnus Nordenskjöld, Karin Wirdefeldt, Diego E. Rincon-Limas, Jada Lewis, Leonard K. Kaczmarek, Pedro Fernandez-Funez, Harry S. Nick, Michael F. Waters

PLoS One. 2017; 12(5): e0173565. Published online 2017 May 3. doi: 10.1371/journal.pone.0173565

PMCID:: PMC5414954

Abstract Article PDF–7.0M

Select item 529488617.

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

Kelly Schoch, Linyan Meng, Szabolcs Szelinger, David R. Bearden, Asbjorg Stray-Pedersen, Oyvind L. Busk, Nicholas Stong, Eriskay Liston, Ronald D. Cohn, Fernando Scaglia, Jill A. Rosenfeld, Jennifer Tarpinian, Cara M. Skraban, Matthew A. Deardorff, Jeremy N. Friedman, Zeynep Coban Akdemir, Nicole Walley, Mohamad A. Mikati, Peter G. Kranz, Joan Jasien, Allyn McConkie-Rosell, Marie McDonald, Stephanie Burns Wechsler, Michael Freemark, Sujay Kansagra, Sharon Freedman, Deeksha Bali, Francisca Millan, Sherri Bale, Stanley F. Nelson, Hane Lee, Naghmeh Dorrani, UCLA Clinical Genomics Center, Undiagnosed Diseases Network, David B. Goldstein, Rui Xiao, Yaping Yang, Jennifer E. Posey, Julian A. Martinez-Agosto, James R. Lupski, Michael F. Wangler, Vandana Shashi

Am J Hum Genet. 2017 Feb 2; 100(2): 343–351. Published online 2017 Jan 26. doi: 10.1016/j.ajhg.2016.12.013

PMCID:: PMC5294886

Abstract Article PDF–1.8M

Select item 524080418.

Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation

Ryan J. Delahanty, Yanfeng Zhang, Terry Jo Bichell, Wangzhen Shen, Kelienne Verdier, Robert L. Macdonald, Lili Xu, Kelli Boyd, Janice Williams, Jing-Qiong Kang

Cell Rep. Author manuscript; available in PMC 2017 Dec 20.

Published in final edited form as: Cell Rep. 2016 Dec 20; 17(12): 3115–3124. doi: 10.1016/j.celrep.2016.11.067

PMCID:: PMC5240804

Abstract Article PDF–1.9M

Select item 512577919.

PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies

Pawel Gawlinski, Renata Posmyk, Tomasz Gambin, Danuta Sielicka, Monika Chorazy, Beata Nowakowska, Shalini N. Jhangiani, Donna M. Muzny, Monika Bekiesinska-Figatowska, Jerzy Bal, Eric Boerwinkle, Richard A. Gibbs, James R. Lupski, Wojciech Wiszniewski

Pediatr Neurol. Author manuscript; available in PMC 2016 Nov 28.

Published in final edited form as: Pediatr Neurol. 2016 Jul; 60: 83–87. Published online 2016 Apr 9. doi: 10.1016/j.pediatrneurol.2016.03.011

PMCID:: PMC5125779

Abstract Article PDF–211K

Select item 485532420.

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

Hisham Megahed, Michaël Nicouleau, Giulia Barcia, Daniel Medina-Cano, Karine Siquier-Pernet, Christine Bole-Feysot, Mélanie Parisot, Cécile Masson, Patrick Nitschké, Marlène Rio, Nadia Bahi-Buisson, Isabelle Desguerre, Arnold Munnich, Nathalie Boddaert, Laurence Colleaux, Vincent Cantagrel

Orphanet J Rare Dis. 2016; 11: 57. Published online 2016 May 4. doi: 10.1186/s13023-016-0436-9