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Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders

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Next-generation sequencing in X-linked intellectual disability

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Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features

(2015) Nathalie Fieremans et al.   European Journal of Medical Genetics

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

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Genome sequencing identifies major causes of severe intellectual disability

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TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway

(2014) Antonio Falace et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability

(2013) Frederic Tran Mau-Them et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Diagnostic Exome Sequencing Identifies Two Novel IQSEC2 Mutations Associated with X-Linked Intellectual Disability with Seizures: Implications for Genetic Counseling and Clinical Diagnosis

(2013) Stephanie K. Gandomi et al.   Journal of Genetic Counseling

De novo mutations in epileptic encephalopathies

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De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

(2013) Hirotomo Saitsu et al.   NATURE GENETICS

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

Emerging major synaptic signaling pathways involved in intellectual disability

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Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009

(2010) Anne T. Berg et al.   EPILEPSIA

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

(2010) Cheryl Shoubridge et al.   NATURE GENETICS

Escape from X chromosome inactivation is an intrinsic property of the Jarid1c locus

(2008) N. Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IQ-ArfGEF/BRAG1 is a guanine nucleotide exchange factor for Arf6 that interacts with PSD-95 at postsynaptic density of excitatory synapses

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