Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile spasms.

Current Opinion in Neurobiology
Pedro R Olivetti, Jeffrey L Noebels

Abstract

X-linked Infantile Spasms Syndrome (ISSX) is a catastrophic epilepsy of early childhood with intractable seizures, intellectual disability, and poor prognosis. A spectrum of mutations in the Aristaless-Related Homeobox gene (ARX) has been linked to ISSX, and downstream targets of this interneuron-expressed transcription factor are being defined. Recent advances combining in vitro and in vivo methods have unveiled complex interactions between Arx and its binding partners and their effects on cell migration and maturation that can help explain the diversity of ARX phenotypes. New mutant mouse models of Arx-induced pathology, including a recent human triplet-repeat expansion mutation with a phenotype of infantile spasms and electrographic seizures, provide valuable tools for exploring the pathophysiology of Arx and substrates for testing novel therapies.

References

Oct 3, 2002·Molecular Genetics and Metabolism·R OhiraE R B McCabe
Mar 3, 2004·Brain Research. Molecular Brain Research·Karine PoirierJamel Chelly
Sep 18, 2004·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Elena ColomboVania Broccoli
Nov 10, 2004·The Journal of Cell Biology·Ilya M NasrallahJeffrey A Golden
Jul 12, 2005·Nature Neuroscience·Inma CobosJohn L R Rubenstein
Mar 8, 2006·The European Journal of Neuroscience·Gaëlle FriocourtJamel Chelly
Dec 14, 2007·Developmental Neuroscience·Anastasia LiapiBagirathy Nadarajah
Jan 5, 2008·Journal of Child Neurology·Arthur Partikian, Wendy G Mitchell
Sep 19, 2008·Human Molecular Genetics·Carl T FulpJeffrey A Golden
Jan 3, 2009·Brain & Development·Takashi OhyaUNKNOWN Research Group on Adverse Effects of Vaccination in Patients with Neurological Disorders
Jun 6, 2009·The Journal of Biological Chemistry·Wenbo LinTao Tao
Jul 9, 2010·Epilepsia·John M PellockJames W Wheless
Jul 22, 2010·Epilepsia·Lenka ChudomelovaAristea S Galanopoulou
Jan 12, 2011·Neuron·Yanling WangJohn L R Rubenstein
Jan 12, 2011·Neuron·Juan Antonio Sánchez-AlcañizOscar Marín
Mar 4, 2011·Proceedings of the National Academy of Sciences of the United States of America·Irini TopalidouMartin Chalfie
Nov 26, 2011·Pediatric Neurology·Alex R PaciorkowskiWilliam B Dobyns

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Citations

Jan 24, 2014·Science Translational Medicine·Pedro R OlivettiJeffrey L Noebels
Mar 19, 2014·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Carlos A PardoAristea S Galanopoulou
Oct 28, 2014·Epilepsy Currents·Michael Wong
Oct 31, 2015·Current Opinion in Neurobiology·Meagan S Siehr, Jeffrey L Noebels
Jan 9, 2015·Neuron·Alex S NordJohn L R Rubenstein
Jun 27, 2014·Developmental Biology·Ginam ChoJeffrey A Golden
Aug 25, 2015·Neurobiology of Disease·Melissa A StoufferFiona Francis
Feb 12, 2013·Epilepsy & Behavior : E&B·Gabriela MatosMonica L Andersen
May 27, 2015·Current Neurology and Neuroscience Reports·Christelle M El AchkarPhillip L Pearl
Jun 12, 2016·BMC Neuroscience·Eric D MarshJeffrey A Golden
Sep 10, 2016·ACS Chemical Neuroscience·Sierk HaenischHeidrun Potschka
Sep 14, 2017·Brain : a Journal of Neurology·Vincenzo SalpietroHenry Houlden
Nov 23, 2017·Cold Spring Harbor Molecular Case Studies·Akemi J TanakaWendy K Chung
Nov 9, 2019·International Journal of Molecular Sciences·Lukasz MajewskiJacek Kuznicki
Nov 7, 2015·Molecular Brain·Jeffrey J MoffatWoo-Yang Kim
Jan 16, 2020·Children·Remi JanicotCarl E Stafstrom
Apr 8, 2020·Human Genome Variation·Yohei TakeshitaHidetoshi Takada
Apr 20, 2018·Current Neurology and Neuroscience Reports·Sarah Aminoff Kelley, Kelly G Knupp
Sep 10, 2020·International Journal of Molecular Sciences·Akari TakaiTomohiro Chiyonobu
Jan 20, 2019·Scientific Reports·Youngshin LimJeffrey A Golden
Apr 16, 2019·Frontiers in Neuroscience·Alfonso Represa
Nov 17, 2020·Neuroreport·Rohaan ManzoorDamian S Shin
Nov 7, 2019·Epilepsy & Behavior : E&B·José Ramón BosqueDolores E López
Jan 10, 2021·Human Genome Variation·Yohei TakeshitaHidetoshi Takada

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