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Select item 73964631.

A Novel Splice-Site Variant in SLC12A6 Causes Andermann Syndrome without Agenesis of the Corpus Callosum

Naema Al Shibli, Almundher Al-Maawali, Alaa Elmanzalawy, Maryam Al-Nabhani, Roshan Koul, Ahlam Gabr, Fathiya Al Murshedi

J Pediatr Genet. 2020 Dec; 9(4): 293–295. Published online 2020 Jan 6. doi: 10.1055/s-0039-1700975

PMCID:: PMC7396463

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Select item 31510882.

Transit Defect of Potassium-Chloride Co-transporter 3 Is a Major Pathogenic Mechanism in Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum

Adèle Salin-Cantegrel, Jean-Baptiste Rivière, Masoud Shekarabi, Sarah Rasheed, Sandra DaCal, Janet Laganière, Rébecca Gaudet, Daniel Rochefort, Gaëtan Lesca, Claudia Gaspar, Patrick A. Dion, Jean-Yves Lapointe, Guy A. Rouleau

J Biol Chem. 2011 Aug 12; 286(32): 28456–28465. Published online 2011 May 31. doi: 10.1074/jbc.M111.226894

PMCID:: PMC3151088

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Select item 85521603.

Expanding the phenotype of SLC12A6-associated sensorimotor neuropathy

Petya Bogdanova-Mihaylova, Patricia McNamara, Sarah Burton-Jones, Sinéad M Murphy

BMJ Case Rep. 2021; 14(10): e244641. Published online 2021 Oct 27. doi: 10.1136/bcr-2021-244641

PMCID:: PMC8552160

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Select item 67776134.

Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs

Mario Van Poucke, Kimberley Stee, Laurien Sonck, Emmelie Stock, Leslie Bosseler, Jo Van Dorpe, Filip Van Nieuwerburgh, Dieter Deforce, Luc J. Peelman, Luc Van Ham, Sofie F. M. Bhatti, Bart J. G. Broeckx

Eur J Hum Genet. 2019 Oct; 27(10): 1561–1568. Published online 2019 Jun 3. doi: 10.1038/s41431-019-0432-3

PMCID:: PMC6777613

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Select item 29449595.

Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish

Laura Southgate, Dimitra Dafou, Jacqueline Hoyle, Nan Li, Esther Kinning, Peter Critchley, Andrea H. Németh, Kevin Talbot, Parayil S. Bindu, Sanjib Sinha, Arun B. Taly, Seetharam Raghavendra, Ferenc Müller, Eamonn R. Maher, Richard C. Trembath

Neurogenetics. 2010; 11(4): 379–389. Published online 2010 Apr 14. doi: 10.1007/s10048-010-0243-8

PMCID:: PMC2944959

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Select item 28854626.

Mutations affecting GABAergic signaling in seizures and epilepsy

Aristea S. Galanopoulou

Pflugers Arch. Author manuscript; available in PMC 2011 Jul 1.

Published in final edited form as: Pflugers Arch. 2010 Jul; 460(2): 505–523. Published online 2010 Mar 30. doi: 10.1007/s00424-010-0816-2

PMCID:: PMC2885462

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Select item 22428587.

Axonal and Periaxonal Swelling Precede Peripheral Neurodegeneration in KCC3 Knockout Mice

Nellie Byun, Eric Delpire

Neurobiol Dis. Author manuscript; available in PMC 2008 Oct 1.

Published in final edited form as: Neurobiol Dis. 2007 Oct; 28(1): 39–51. Published online 2007 Jun 23. doi: 10.1016/j.nbd.2007.06.014

PMCID:: PMC2242858

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Select item 19149478.

The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q.

L. K. Casaubon, M. Melanson, I. Lopes-Cendes, C. Marineau, E. Andermann, F. Andermann, J. Weissenbach, C. Prévost, J. P. Bouchard, J. Mathieu, G. A. Rouleau

Am J Hum Genet. 1996 Jan; 58(1): 28–34.

PMCID:: PMC1914947

Summary Page Browse PDF–1006K Cite

Select item 81635759.

Temporal manipulation of KCC3 expression in juvenile or adult mice suggests irreversible developmental deficit in hereditary motor sensory neuropathy with agenesis of the corpus callosum

Bianca Flores, Eric Delpire

Am J Physiol Cell Physiol. 2021 May 1; 320(5): C722–C730. Published online 2021 Feb 17. doi: 10.1152/ajpcell.00594.2020

PMCID:: PMC8163575

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Select item 366553210.

Potassium-Chloride Cotransporter 3 Interacts with Vav2 to Synchronize the Cell Volume Decrease Response with Cell Protrusion Dynamics

Adèle Salin-Cantegrel, Masoud Shekarabi, Sarah Rasheed, François M. Charron, Janet Laganière, Rebecca Gaudet, Patrick A. Dion, Jean-Yves Lapointe, Guy A. Rouleau

PLoS One. 2013; 8(5): e65294. Published online 2013 May 28. doi: 10.1371/journal.pone.0065294

PMCID:: PMC3665532

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Select item 1068106611.

Unique clinical and neurophysiologic profile of a cohort of children with CMTX3

Manoj Kanhangad, Kayla Cornett, Megan H. Brewer, Garth A. Nicholson, Monique M. Ryan, Robert L. Smith, Gopinath M. Subramanian, Helen K. Young, Stephan Züchner, Marina L. Kennerson, Joshua Burns, Manoj P. Menezes

Neurology. 2018 May 8; 90(19): e1706–e1710. doi: 10.1212/WNL.0000000000005479

PMCID:: PMC10681066

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Select item 1054552412.

Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1

Menelaos Pipis, Seongsik Won, Roy Poh, Stephanie Efthymiou, James M Polke, Mariola Skorupinska, Julian Blake, Alexander M Rossor, John J Moran, Pinki Munot, Francesco Muntoni, Matilde Laura, John Svaren, Mary M Reilly

Brain. 2023 Oct; 146(10): 4025–4032. Published online 2023 Jun 20. doi: 10.1093/brain/awad203

PMCID:: PMC10545524

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Select item 1052213713.

Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery

Fernanda A. Correa, Marilena Nakaguma, João L. O. Madeira, Mirian Y. Nishi, Milena G. Abrão, Alexander A. L. Jorge, Luciani R. Carvalho, Ivo J. P. Arnhold, Berenice B. Mendonça

Arch Endocrinol Metab. 2019 Mar-Apr; 63(2): 167–174. Published online 2019 May 13. doi: 10.20945/2359-3997000000139

PMCID:: PMC10522137

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Select item 1046703514.

Krüppel‐like factor 7 deficiency disrupts corpus callosum development and neuronal migration in the developing mouse cerebral cortex

Wentong Hong, Pifang Gong, Xinjie Pan, Yitong Liu, Guibo Qi, Congcong Qi, Song Qin

Brain Pathol. 2023 Sep; 33(5): e13186. Published online 2023 Jul 3. doi: 10.1111/bpa.13186

PMCID:: PMC10467035

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Select item 1045407115.

Aicardi Syndrome Is a Genetically Heterogeneous Disorder

Thuong T. Ha, Rosemary Burgess, Morgan Newman, Ching Moey, Simone A. Mandelstam, Alison E. Gardner, Atma M. Ivancevic, Duyen Pham, Raman Kumar, Nicholas Smith, Chirag Patel, Stephen Malone, Monique M. Ryan, Sophie Calvert, Clare L. van Eyk, Michael Lardelli, Samuel F. Berkovic, Richard J. Leventer, Linda J. Richards, Ingrid E. Scheffer, Jozef Gecz, Mark A. Corbett

Genes (Basel) 2023 Aug; 14(8): 1565. Published online 2023 Jul 31. doi: 10.3390/genes14081565

PMCID:: PMC10454071

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Select item 1038839216.

Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis

Hanya M Qureshi, Kedous Y Mekbib, Garrett Allington, Aladine A Elsamadicy, Phan Q Duy, Adam J Kundishora, Sheng Chih Jin, Kristopher T Kahle

Cereb Cortex. 2023 Mar 15; 33(6): 3012–3025. Published online 2022 Jul 18. doi: 10.1093/cercor/bhac257

PMCID:: PMC10388392

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Select item 1036975917.

Neurodevelopmental impairments in children with septo-optic dysplasia spectrum conditions: a systematic review

Amy Mann, Arameh Aghababaie, Jennifer Kalitsi, Daniel Martins, Yannis Paloyelis, Ritika R. Kapoor

Mol Autism. 2023; 14: 26. Published online 2023 Jul 25. doi: 10.1186/s13229-023-00559-0

PMCID:: PMC10369759

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Select item 1031977718.

Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects

Lama AlAbdi, Muriel Desbois, Domniţa-Valeria Rusnac, Raashda A Sulaiman, Jill A Rosenfeld, Seema Lalani, David R Murdock, Lindsay C Burrage, Undiagnosed Diseases Network, Ping Yee Billie Au, Shelley Towner, William G Wilson, Lawrence Wong, Theresa Brunet, Gertrud Strobl-Wildemann, Jennifer E Burton, George Hoganson, Kirsty McWalter, Amber Begtrup, Yuri A Zarate, Elyse L Christensen, Karla J Opperman, Andrew C Giles, Rana Helaby, Artur Kania, Ning Zheng, Brock Grill, Fowzan S Alkuraya

Brain. 2023 Apr; 146(4): 1373–1387. Published online 2022 Oct 6. doi: 10.1093/brain/awac364

PMCID:: PMC10319777

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Select item 1031883219.

A de novo heterozygous variant in ACOX1 gene cause Mitchell syndrome: the first case in China and literature review

Mengxiao Shen, Qian Chen, Yanyan Gao, Hongyu Yan, Shuo Feng, Xinna Ji, Xue Zhang

BMC Med Genomics. 2023; 16: 156. Published online 2023 Jul 3. doi: 10.1186/s12920-023-01577-w

PMCID:: PMC10318832

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Select item 1029841120.

Interstitial Deletion of 3q21 in a Kuwaiti Child with Multiple Congenital Anomalies—Expanding the Phenotype

Noor Almoosawy, Fawaz Albaghli, Haya H. Al-Balool, Hanan Fathi, Waleed A. Zakaria, Mariam Ayed, Hind Alsharhan

Genes (Basel) 2023 Jun; 14(6): 1225. Published online 2023 Jun 5. doi: 10.3390/genes14061225

PMCID:: PMC10298411

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