Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures

PloS One
Toshiyuki YamamotoAkihisa Okumura

Abstract

Nucleotide alterations in the gene encoding proline-rich transmembrane protein 2 (PRRT2) have been identified in most patients with benign partial epilepsies in infancy (BPEI)/benign familial infantile epilepsy (BFIE). However, not all patients harbor these PRRT2 mutations, indicating the involvement of genes other than PRRT2. In this study, we performed whole exome sequencing analysis for a large family affected with PRRT2-unrelated BPEI. We identified a non-synonymous single nucleotide variation (SNV) in the voltage-sensitive chloride channel 6 gene (CLCN6). A cohort study of 48 BPEI patients without PRRT2 mutations revealed a different CLCN6 SNV in a patient, his sibling and his father who had a history of febrile seizures (FS) but not BPEI. Another study of 48 patients with FS identified an additional SNV in CLCN6. Chloride channels (CLCs) are involved in a multitude of physiologic processes and some members of the CLC family have been linked to inherited diseases. However, a phenotypic correlation has not been confirmed for CLCN6. Although we could not detect significant biological effects linked to the identified CLCN6 SNVs, further studies should investigate potential CLCN6 variants that may underlie the genetic suscepti...Continue Reading

References

Oct 7, 1998·Brain & Development·S L Kugler, W G Johnson
Jul 11, 2000·Human Molecular Genetics·T SanderA Reis
Jul 13, 2000·Brain & Development·K Watanabe, A Okumura
Oct 14, 2005·Journal of Cellular Physiology·Tatsunori SuzukiShinichi Uchida
Jan 19, 2006·Epilepsia·Akihisa OkumuraYoshiteru Azuma
Jul 14, 2006·Epilepsy Research·Akihisa OkumuraTamiko Negoro
Sep 5, 2006·Proceedings of the National Academy of Sciences of the United States of America·Mallorie PoëtThomas J Jentsch
Mar 16, 2007·Neuropediatrics·A OkumuraJ Natsume
Mar 1, 2008·Critical Reviews in Biochemistry and Molecular Biology·Thomas J Jentsch
Aug 28, 2009·Nature Genetics·Ailing Kleefuss-LieHolger Lerche
Sep 8, 2009·Genomics·Keiko ShimojimaToshiyuki Yamamoto
Dec 29, 2009·Nature Genetics·María I NiemeyerThomas J Jentsch
Apr 1, 2010·Nature Methods·Ivan A AdzhubeiShamil R Sunyaev
Apr 9, 2010·The International Journal of Neuroscience·Nan LiBeisha Tang
Nov 26, 2010·Journal of Neuropathology and Experimental Neurology·Sarah N R PresseyJonathan D Cooper
Jan 17, 2012·American Journal of Human Genetics·Sarah E HeronLeanne M Dibbens
Nov 8, 2012·Brain & Development·Akihisa OkumuraToshiyuki Yamamoto
Dec 18, 2012·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Akihisa OkumuraToshiyuki Yamamoto
Jan 9, 2014·Reviews in the Neurosciences·Amene SaghazadehNima Rezaei

❮ Previous
Next ❯

Citations

Nov 13, 2015·Epilepsy Research·Noriko SanguToshiyuki Yamamoto
Feb 2, 2018·International Journal of Cancer. Journal International Du Cancer·Juan TanJingyuan Fang
May 31, 2018·Physiological Reviews·Thomas J Jentsch, Michael Pusch
Mar 13, 2021·Frontiers in Cell and Developmental Biology·Shroddha BoseTobias Stauber
Nov 21, 2020·American Journal of Human Genetics·Maya M PolovitskayaThomas J Jentsch

❮ Previous
Next ❯

Methods Mentioned

BETA
exome sequencing
PCR
reverse transcription-PCR

Software Mentioned

PolyPhen

Related Concepts

Related Feeds

Absence Epilepsy

Absence epilepsy is a common seizure disorder in children which can produce chronic psychosocial sequelae. Discover the latest research on absence epilepsies here.

Batten Disease

Batten Disease is a group of nervous system disorders known as neuronal ceroid lipofuscinosis. This feed focuses on neurobiological and neuropathological aspects of this disease.