Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy

The human clinical phenotypes of altered CHRNA7 copy number

(2015) Madelyn A. Gillentine et al.   BIOCHEMICAL PHARMACOLOGY

Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: Migrating partial seizures of infancy or atypical Dravet syndrome?

(2015) Byung Chan Lim et al.   EPILEPSY RESEARCH

TheSCN1AMutation Database: Updating Information and Analysis of the Relationships among Genotype, Functional Alteration, and Phenotype

(2015) Heng Meng et al.   HUMAN MUTATION

CACNA1B mutation is linked to unique myoclonus-dystonia syndrome

(2014) J. L. Groen et al.   HUMAN MOLECULAR GENETICS

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

(2014) Eva M. Reinthaler et al.   HUMAN MOLECULAR GENETICS

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability

(2014) Anna A Kashevarova et al.   Molecular Cytogenetics

Refinement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder

(2013) Santhosh Girirajan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1

(2013) E. Rees et al.   HUMAN MOLECULAR GENETICS

Recurrent deletions of ULK4 in schizophrenia: a gene crucial for neuritogenesis and neuronal motility

(2013) B. Lang et al.   JOURNAL OF CELL SCIENCE

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

(2013) J C Hodge et al.   MOLECULAR PSYCHIATRY

Novel SCN3A variants associated with focal epilepsy in children

(2013) Carlos G. Vanoye et al.   NEUROBIOLOGY OF DISEASE

Copy number variants are frequent in genetic generalized epilepsy with intellectual disability

(2013) S. A. Mullen et al.   NEUROLOGY

Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability

(2012) Tjitske Kleefstra et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders

(2012) Magdalena Bartnik et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

(2011) Michael E. Talkowski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare copy number variants are an important cause of epileptic encephalopathies

(2011) Heather C. Mefford et al.   ANNALS OF NEUROLOGY

Clinical Significance of Rare Copy Number Variations in Epilepsy

(2011) Pasquale Striano   ARCHIVES OF NEUROLOGY

Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology

(2011) C. B. Catarino et al.   BRAIN

Clinical spectrum of SCN2A mutations

(2011) Xiuyu Shi et al.   BRAIN & DEVELOPMENT

A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism

(2011) HE Yu et al.   CLINICAL GENETICS

2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features

(2011) Grace J. Noh et al.   European Journal of Medical Genetics

16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders

(2011) Arivudainambi Ramalingam et al.   JOURNAL OF HUMAN GENETICS

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism

(2011) Emma van Daalen et al.   NEUROGENETICS

De novo SCN1A mutations in migrating partial seizures of infancy

(2011) D. Carranza Rojo et al.   NEUROLOGY

Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes

(2010) Erin L. Heinzen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Sporadic hemiplegic migraine and epilepsy associated with CACNA1A gene mutation

(2010) Andro Zangaladze et al.   EPILEPSY & BEHAVIOR

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

(2010) Heather C. Mefford et al.   PLoS Genetics

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment and seizures

(2009) Stephen R Williams et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

(2009) H. C. Mefford et al.   GENOME RESEARCH

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

Segmental duplications mediate novel, clinically relevant chromosome rearrangements

(2009) M. Katharine Rudd et al.   HUMAN MOLECULAR GENETICS

Support for the involvement of large copy number variants in the pathogenesis of schizophrenia

(2009) George Kirov et al.   HUMAN MOLECULAR GENETICS

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

(2009) T Kleefstra et al.   JOURNAL OF MEDICAL GENETICS

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

(2009) M. Shinawi et al.   JOURNAL OF MEDICAL GENETICS

Copy number variations of chromosome 16p13.1 region associated with schizophrenia

(2009) A Ingason et al.   MOLECULAR PSYCHIATRY

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis

(2009) E. Matthews et al.   NEUROLOGY

A Role of SCN9A in Human Epilepsies, As a Cause of Febrile Seizures and As a Potential Modifier of Dravet Syndrome

(2009) Nanda A. Singh et al.   PLoS Genetics

Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients

(2008) C Depienne et al.   JOURNAL OF MEDICAL GENETICS

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

(2008) Hirotomo Saitsu et al.   NATURE GENETICS

Association between Microdeletion and Microduplication at 16p11.2 and Autism

(2008) Lauren A. Weiss et al.   NEW ENGLAND JOURNAL OF MEDICINE