PMC Articles for MedGen (Select 815784) - PMC

Select item 74591421.

A Homozygous Truncating Mutation in NALCN Causing IHPRF1: Detailed Clinical Manifestations and a Review of Literature

Amir Hossein Karimi, Mohammad Reza Karimi, Poopak Farnia, Farshid Parvini, Majid Foroutan

Appl Clin Genet. 2020; 13: 151–157. Published online 2020 Aug 27. doi: 10.2147/TACG.S261781

PMCID:: PMC7459142

Select item 66924092.

Functional expression of CLIFAHDD and IHPRF pathogenic variants of the NALCN channel in neuronal cells reveals both gain- and loss-of-function properties

Malik Bouasse, Hathaichanok Impheng, Zoe Servant, Philippe Lory, Arnaud Monteil

Sci Rep. 2019; 9: 11791. Published online 2019 Aug 13. doi: 10.1038/s41598-019-48071-x

PMCID:: PMC6692409

Abstract Article PDF–3.3M

Select item 99445713.

Expanding the phenotype of PURA-related neurodevelopmental disorder to Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies

Shivani Mishra, Katta Mohan Girisha, Anju Shukla

Clin Dysmorphol. Author manuscript; available in PMC 2023 Feb 22.

Published in final edited form as: Clin Dysmorphol. 2021 Jan; 30(1): 1–5. doi: 10.1097/MCD.0000000000000360

PMCID:: PMC9944571

Abstract Article PDF–277K

Select item 95165724.

Severe central sleep apnea in a child with biallelic variants in NALCN

Kristina Maselli, Hyunbin Park, Margo Sheck Breilyn, Raanan Arens

J Clin Sleep Med. 2022 Oct 1; 18(10): 2507–2513. Published online 2022 Oct 1. doi: 10.5664/jcsm.10146

PMCID:: PMC9516572

Abstract Article PDF–1.2M

Select item 87761695.

Central Apneas Due to the CLIFAHDD Syndrome Successfully Treated with Pyridostigmine

Anna Winczewska-Wiktor, Adam Sebastian Hirschfeld, Magdalena Badura-Stronka, Irena Wojsyk-Banaszak, Paulina Sobkowiak, Alicja Bartkowska-Śniatkowska, Valeriia Babak, Barbara Steinborn

Int J Environ Res Public Health. 2022 Jan; 19(2): 775. Published online 2022 Jan 11. doi: 10.3390/ijerph19020775

PMCID:: PMC8776169

Abstract Article PDF–814K

Select item 66716796.

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Nuria C. Bramswig, Aida M. Bertoli-Avella, Beate Albrecht, Aida I. Al Aqeel, Amal Alhashem, Nouriya Al-Sannaa, Maissa Bah, Katharina Bröhl, Christel Depienne, Nathalie Dorison, Diane Doummar, Nadja Ehmke, Hasnaa M. Elbendary, Svetlana Gorokhova, Delphine Héron, Denise Horn, Kiely James, Boris Keren, Alma Kuechler, Samira Ismail, Mahmoud Y. Issa, Isabelle Marey, Michèle Mayer, Jennifer McEvoy-Venneri, Andre Megarbane, Cyril Mignot, Sarar Mohamed, Caroline Nava, Nicole Philip, Cecile Ravix, Arndt Rolfs, Abdelrahim Abdrabou Sadek, Lara Segebrecht, Valentina Stanley, Camille Trautman, Stephanie Valence, Laurent Villard, Thomas Wieland, Hartmut Engels, Tim M. Strom, Maha S. Zaki, Joseph G. Gleeson, Hermann-Josef Lüdecke, Peter Bauer, Dagmar Wieczorek

Hum Genet. Author manuscript; available in PMC 2019 Aug 1.

Published in final edited form as: Hum Genet. 2018 Sep; 137(9): 753–768. Published online 2018 Aug 23. doi: 10.1007/s00439-018-1929-5

PMCID:: PMC6671679

Abstract Article PDF–649K

Select item 47166707.

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability

Asbjørg Stray-Pedersen, Jan-Maarten Cobben, Trine E. Prescott, Sora Lee, Chunlei Cang, Kimberly Aranda, Sohnee Ahmed, Marielle Alders, Thorsten Gerstner, Kathinka Aslaksen, Martine Tétreault, Wen Qin, Taila Hartley, Shalini N. Jhangiani, Donna M. Muzny, Maja Tarailo-Graovac, Clara D.M. van Karnebeek, Care4Rare Canada Consortium, Baylor-Hopkins Center for Mendelian Genomics, James R. Lupski, Dejian Ren, Grace Yoon

Am J Hum Genet. 2016 Jan 7; 98(1): 202–209. Published online 2015 Dec 17. doi: 10.1016/j.ajhg.2015.11.004

PMCID:: PMC4716670

Abstract Article PDF–904K

Select item 93261638.

Case Report: A de novo Variant in NALCN Associated With CLIFAHDD Syndrome in a Chinese Infant

Zhenyu Liao, Yali Liu, Yimin Wang, Qin Lu, Yu Peng, Qingsong Liu

Front Pediatr. 2022; 10: 927392. Published online 2022 Jul 13. doi: 10.3389/fped.2022.927392

PMCID:: PMC9326163

Abstract Article PDF–906K

Select item 95875829.

Identification of a novel pathogenic TBCK variant in a Chinese patient with infantile hypotonia with psychomotor retardation and characteristic facies type 3 (IHPRF3): a case report

Hao-Yi Tan, Bin Wang, Yuan-Zong Song

BMC Pediatr. 2022; 22: 612. Published online 2022 Oct 22. doi: 10.1186/s12887-022-03672-w

PMCID:: PMC9587582

Abstract Article PDF–960K

Select item 630731910.

Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease – a new type of neuronal ceroid lipofuscinosis (CLN15)?

Stefanie Beck-Wödl, Klaus Harzer, Marc Sturm, Rebecca Buchert, Olaf Rieß, Hans-Dieter Mennel, Elisabeth Latta, Axel Pagenstecher, Ursula Keber

Acta Neuropathol Commun. 2018; 6: 145. Published online 2018 Dec 27. doi: 10.1186/s40478-018-0646-6

PMCID:: PMC6307319

Abstract Article PDF–3.9M

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