Two Novel KCNQ2 Mutations in 2 Families With Benign Familial Neonatal Convulsions

Child Neurology Open
Ghalia Al YazidiMyriam Srour

Abstract

Benign familial neonatal convulsion is a rare autosomal dominant inherited epilepsy syndrome characterized by unprovoked seizures in the first few days of life, normal psychomotor development, and a positive intergenerational family history of neonatal seizures. Over 90% of the affected individuals have inherited causal mutations in KCNQ2, which encodes for the potassium voltage-gated channel subfamily Q, member 2. Mutations in KCNQ2 are also associated with a severe neonatal encephalopathy phenotype associated with poor seizure control and neurodevelopmental deficits. The authors report the clinical presentations, response to medication, and intrafamilial phenotypic variability in 2 families with benign familial neonatal convulsions, carrying previously unreported heterozygous missense mutations, c.1066C>G (p.Leu356Val) and c.1721G<A (p.Gly574Asp), in KCNQ2. The cases reported herein suggest that inherited missense mutations in KCNQ2 can be associated with an intermediate phenotype and illustrate the challenges associated with prognosis and counselling for individuals with inherited missense mutations in KCNQ2.

References

Nov 12, 1994·Lancet·S WakaiS Chiba
Feb 7, 1998·Science·C BiervertO K Steinlein
Nov 6, 2002·Proceedings of the National Academy of Sciences of the United States of America·Petra BittigauChrysanthy Ikonomidou
Oct 10, 2003·Brain : a Journal of Neurology·Nanda A SinghUNKNOWN BFNC Physician Consortium
Nov 30, 2006·Epilepsy Research·O K SteinleinB Weidner
Aug 7, 2007·Journal of Medical Genetics·S E HeronJ C Mulley
Feb 2, 2008·The Journal of Physiology·Snezana MaljevicHolger Lerche
Jan 26, 2012·Annals of Neurology·Sarah WeckhuysenPeter de Jonghe
Aug 29, 2012·Annals of Neurology·Hirotomo SaitsuNaomichi Matsumoto
Jan 16, 2013·Journal of Child Neurology·Laurel A SlaughterJonathan L Slaughter
Feb 27, 2013·Proceedings of the National Academy of Sciences of the United States of America·Francesco MiceliMaurizio Taglialatela
Sep 21, 2013·Journal of Perinatology : Official Journal of the California Perinatal Association·N L MaitreA R Stark
Dec 10, 2013·Annals of Neurology·Gökce OrhanSnezana Maljevic
Aug 13, 2014·Epilepsy & Behavior : E&B·Samuel B GutherzPatrick A Forcelli
Sep 8, 2016·Neurology. Genetics·John J MillichapEdward C Cooper

❮ Previous
Next ❯

Citations


❮ Previous
Next ❯

Software Mentioned

SIFT
PolyPhen

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
O Dobrescu, A Larbrisseau
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
Lubov BlumkinTally Lerman-Sagie
© 2022 Meta ULC. All rights reserved