Search the collection

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 1
ArticlesPeer ReviewedFull Text
Emerging evidence of genotype–phenotype associations of developmental and epileptic encephalopathy due to KCNC2 mutation: Identification of novel R405G
Author / Creator:Wang, Sumei ; Yu, Yejing ; Wang, Xu ; Deng, Xiaolong ; Ma, Jiehui ; Liu, Zhisheng ; Gu, Weiyue ; Sun, Dan
Publisher:Lausanne: Frontiers Research Foundation
Journal title:Frontiers in molecular neuroscience, 2022-08, Vol.15, p.950255-950255
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 2
ArticlesPeer ReviewedFull Text
Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia
Author / Creator:Rajakulendran, Sanjeev ; Roberts, Joanna ; Koltzenburg, Martin ; Hanna, Michael G ; Stewart, Helen
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of neurology, neurosurgery and psychiatry, 2013-11, Vol.84 (11), p.1255-1257
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 3
ArticlesPeer ReviewedFull Text
An integrative study identifies KCNC2 as a novel predisposing factor for childhood obesity and the risk of diabetes in the Korean population
Author / Creator:Hwang, Joo-Yeon ; Lee, Hyo Jung ; Go, Min Jin ; Jang, Han Byul ; Park, Sang Ick ; Kim, Bong-Jo ; Lee, Hye-Ja
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2016-09, Vol.6 (1), p.33043-33043, Article 33043
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 4
ArticlesPeer ReviewedFull Text
DELETION OF THE POTASSIUM CHANNEL GENE KCNC2 IN A FAMILY WITH NEURODEVELOPMENTAL DELAY AND ATAXIA
Author / Creator:Rajakulendran, S ; Stewart, H ; Koltzenburg, M ; Hanna, MG
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of neurology, neurosurgery and psychiatry, 2012-11, Vol.83 (Suppl 2), p.A13-A13
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 5
ArticlesPeer ReviewedFull Text
Whole-Exome Sequencing Implicates SCN2A in Episodic Ataxia, but Multiple Ion Channel Variants May Contribute to Phenotypic Complexity
Author / Creator:Maksemous, Neven ; Smith, Robert A. ; Sutherland, Heidi G. ; Sampaio, Hugo ; Griffiths, Lyn R.
Publisher:Switzerland: MDPI
Journal title:International journal of molecular sciences, 2018-10, Vol.19 (10), p.3113
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 6
ArticlesFull Text
Researchers at Washington University Target Epilepsy (Germline Mosaicism of a Missense Variant In Kcnc2 In a Multiplex Family With Autism and Epilepsy Characterized By Long-read Sequencing)
Publisher:NewsRX LLC
Journal title:Obesity, fitness, & wellness week, 2022-05, p.620
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 7
Newsletter articlesFull Text
New Epileptic Encephalopathy Research from Washington University Outlined (Case Report: Targeted treatment by fluoxetine/norfluoxetine of a KCNC2 variant causing developmental and epileptic encephalop...
Publisher:NewsRX LLC
Journal title:Health & Medicine Week, 2025, p.3144
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 8
Newsletter articlesFull Text
Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy
Publisher:NewsRX LLC
Journal title:Mental Health Weekly Digest, 2021, p.211
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 9
ArticlesFull Text
Investigators at University of Tubingen Zero in on Infantile Spasm (Whole-Exome Sequencing in NF1-Related West Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy)
Publisher:NewsRX LLC
Journal title:Obesity, fitness, & wellness week, 2020-05, p.2268
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 10
Newsletter articlesFull Text
Heterozygous variants in KCNC2 cause a broad spectrum of epilepsy phenotypes associated with characteristic functional alterations
Publisher:NewsRX LLC
Journal title:Health & Medicine Week, 2021, p.3352
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 11
Newsletter articlesFull Text
Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants
Publisher:NewsRX LLC
Journal title:Health & Medicine Week, 2022, p.3010
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 12
Newsletter articlesFull Text
Studies in the Area of Epileptic Encephalopathy Reported from Chinese Academy of Sciences (Investigation of Novel De Novo Kcnc2 Variants Causing Severe Developmental and Early-onset Epileptic Encephal...
Publisher:NewsRX LLC
Journal title:Health & Medicine Week, 2022, p.4883
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 13
ArticlesPeer ReviewedFull Text
Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes
Author / Creator:Luukkonen, Tiia Maria ; Mehrjouy, Mana M. ; Pöyhönen, Minna ; Anttonen, Anna‐Kaisa ; Lahermo, Päivi ; Ellonen, Pekka ; Paulin, Lars ; Tommerup, Niels ; Palotie, Aarno ; Varilo, Teppo
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2018-01, Vol.6 (1), p.56-68
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 14
ArticlesPeer ReviewedFull Text
Identifying of immune‐associated genes for assessing the obesity‐associated risk to the offspring in maternal obesity: A bioinformatics and machine learning
Author / Creator:Shang, Yanxing ; Wang, Xueqin ; Su, Sixuan ; Ji, Feng ; Shao, Donghai ; Duan, Chengwei ; Chen, Tianpeng ; Liang, Caixia ; Zhang, Dongmei ; Lu, Hongjian
Publisher:England: John Wiley & Sons, Inc
Journal title:CNS neuroscience & therapeutics, 2024-03, Vol.30 (3), p.e14700-n/a
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 15
ArticlesPeer ReviewedFull Text
Global analysis of aberrant pre-mRNA splicing in glioblastoma using exon expression arrays
Author / Creator:Cheung, Hannah C ; Baggerly, Keith A ; Tsavachidis, Spiridon ; Bachinski, Linda L ; Neubauer, Valerie L ; Nixon, Tamara J ; Aldape, Kenneth D ; Cote, Gilbert J ; Krahe, Ralf
Publisher:England: BioMed Central Ltd
Journal title:BMC genomics, 2008-05, Vol.9 (1), p.216-216, Article 216
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 16
ArticlesPeer ReviewedFull Text
Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies
Author / Creator:Vetri, Luigi ; Calì, Francesco ; Saccone, Salvatore ; Vinci, Mirella ; Chiavetta, Natalia Valeria ; Carotenuto, Marco ; Roccella, Michele ; Costanza, Carola ; Elia, Maurizio
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2024-01, Vol.25 (2), p.1146
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 17
ArticlesPeer ReviewedFull Text
Functional effects of spinocerebellar ataxia type 13 mutations are conserved in zebrafish Kv3.3 channels
Author / Creator:Mock, Allan F ; Richardson, Jessica L ; Hsieh, Jui-Yi ; Rinetti, Gina ; Papazian, Diane M
Publisher:England: BioMed Central Ltd
Journal title:BMC neuroscience, 2010-08, Vol.11 (1), p.99-99, Article 99
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 18
ReportsFull Text
Whole-Exome Sequencing Implicates SCN2A in Episodic Ataxia, but Multiple Ion Channel Variants May Contribute to Phenotypic Complexity
Author / Creator:Maksemous, Neven ; Smith, Robert A ; Sutherland, Heidi G ; Sampaio, Hugo ; Griffiths, Lyn R
Journal title:International journal of molecular sciences, 2018, Vol.19 (10)
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 19
ArticlesPeer ReviewedFull Text
Prenatal Valproate Exposure Differentially Affects Parvalbumin-Expressing Neurons and Related Circuits in the Cortex and Striatum of Mice
Author / Creator:Lauber, Emanuel ; Filice, Federica ; Schwaller, Beat
Publisher:Switzerland: Frontiers Research Foundation
Journal title:Frontiers in molecular neuroscience, 2016-12, Vol.9, p.150-150
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Export record to excel

Export this record

Export record to excel

Emerging evidence of genotype–phenotype associations of developmental and epileptic encephalopathy due to KCNC2 mutation: Identification of novel R405G

Export this record

Export record to excel

Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia

Export this record

Export record to excel

An integrative study identifies KCNC2 as a novel predisposing factor for childhood obesity and the risk of diabetes in the Korean population

Export this record

Export record to excel

DELETION OF THE POTASSIUM CHANNEL GENE KCNC2 IN A FAMILY WITH NEURODEVELOPMENTAL DELAY AND ATAXIA

Export this record

Export record to excel

Whole-Exome Sequencing Implicates SCN2A in Episodic Ataxia, but Multiple Ion Channel Variants May Contribute to Phenotypic Complexity

Export this record

Export record to excel

Researchers at Washington University Target Epilepsy (Germline Mosaicism of a Missense Variant In Kcnc2 In a Multiplex Family With Autism and Epilepsy Characterized By Long-read Sequencing)

Export this record

Export record to excel

New Epileptic Encephalopathy Research from Washington University Outlined (Case Report: Targeted treatment by fluoxetine/norfluoxetine of a KCNC2 variant causing developmental and epileptic encephalop...

Export this record

Export record to excel

Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy

Export this record

Export record to excel

Investigators at University of Tubingen Zero in on Infantile Spasm (Whole-Exome Sequencing in NF1-Related West Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy)

Export this record

Export record to excel

Heterozygous variants in KCNC2 cause a broad spectrum of epilepsy phenotypes associated with characteristic functional alterations

Export this record

Export record to excel

Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants

Export this record

Export record to excel

Studies in the Area of Epileptic Encephalopathy Reported from Chinese Academy of Sciences (Investigation of Novel De Novo Kcnc2 Variants Causing Severe Developmental and Early-onset Epileptic Encephal...

Export this record

Export record to excel

Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes

Export this record

Export record to excel

Identifying of immune‐associated genes for assessing the obesity‐associated risk to the offspring in maternal obesity: A bioinformatics and machine learning

Export this record

Export record to excel

Global analysis of aberrant pre-mRNA splicing in glioblastoma using exon expression arrays

Export this record

Export record to excel

Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies

Export this record

Export record to excel

Functional effects of spinocerebellar ataxia type 13 mutations are conserved in zebrafish Kv3.3 channels

Export this record

Export record to excel

Whole-Exome Sequencing Implicates SCN2A in Episodic Ataxia, but Multiple Ion Channel Variants May Contribute to Phenotypic Complexity

Export this record

Export record to excel

Prenatal Valproate Exposure Differentially Affects Parvalbumin-Expressing Neurons and Related Circuits in the Cortex and Striatum of Mice

Refine your search