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

Questionable pathogenicity of FOXG1 duplication

(2012) David J Amor et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Reply to Amor et al

(2012) Nicola Brunetti-Pierri et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG and TOR1A

(2012) Ian M. Campbell et al.   GENETICS IN MEDICINE

A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: a case report

(2012) Orazio Palumbo et al.   Molecular Cytogenetics

West syndrome associated with mosaic duplication ofFOXG1in a patient with maternal uniparental disomy of chromosome 14

(2011) Jun Tohyama et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Rare copy number variants are an important cause of epileptic encephalopathies

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

Exome Sequencing of Ion Channel Genes Reveals Complex Profiles Confounding Personal Risk Assessment in Epilepsy

(2011) Tara Klassen et al.   CELL

Genetic contribution to common epilepsies

(2011) Sanjay M Sisodiya et al.   CURRENT OPINION IN NEUROLOGY

Epilepsy and the new cytogenetics

(2011) John C. Mulley et al.   EPILEPSIA

A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development

(2011) Stefan White et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

(2011) Alex R Paciorkowski et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Translocation breakpoint at 7q31 associated with tics: further evidence for IMMP2L as a candidate gene for Tourette syndrome

(2011) Chirag Patel et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

De novo deletion of chromosome 2q24.2 region in a mentally retarded boy with muscular hypotonia

(2011) Chiara Magri et al.   European Journal of Medical Genetics

Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females

(2011) Magdalena Bartnik et al.   GENETICS IN MEDICINE

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

(2011) Jillian P. Casey et al.   HUMAN GENETICS

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats

(2011) Paweł Stankiewicz et al.   HUMAN MUTATION

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

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

West syndrome associated with 14q12 duplications harboring FOXG1

(2011) P. Striano et al.   NEUROLOGY

Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems

(2010) Melissa B. Ramocki et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions

(2010) Jill A. Rosenfeld et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic testing in the epilepsies-Report of the ILAE Genetics Commission

(2010) Ruth Ottman et al.   EPILEPSIA

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

Genetic linkage study of an autosomal recessive form of juvenile myoclonic epilepsy in a consanguineous Tunisian family

(2010) Samia Layouni et al.   EPILEPSY RESEARCH

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation and severe speech impairment

(2010) Nicola Brunetti-Pierri et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Phenotypic manifestations of copy number variation in chromosome 16p13.11

(2010) Sandesh C Sreenath Nagamani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

(2010) Przemyslaw Szafranski et al.   HUMAN MUTATION

Detection of clinically relevant exonic copy-number changes by array CGH

(2010) Philip M. Boone et al.   HUMAN MUTATION

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression

(2010) Markus Zweier et al.   HUMAN MUTATION

Genetic evaluation and counseling for epilepsy

(2010) Deb K. Pal et al.   Nature Reviews Neurology

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

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

Characterising and Predicting Haploinsufficiency in the Human Genome

(2010) Ni Huang et al.   PLoS Genetics

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

(2009) C. G. F. de Kovel et al.   BRAIN

SCN1Aduplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis

(2009) Carla Marini et al.   EPILEPSIA

Xp22.3 genomic deletions involving theCDKL5gene in girls with early onset epileptic encephalopathy

(2009) Davide Mei et al.   EPILEPSIA

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

(2009) Marjolein H Willemsen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment

(2009) Alison Yeung et al.   European Journal of Medical Genetics

A spontaneous mutation of theWwoxgene and audiogenic seizures in rats with lethal dwarfism and epilepsy

(2009) H. Suzuki et al.   GENES BRAIN AND BEHAVIOR

High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications

(2009) T. H. Shaikh et al.   GENOME RESEARCH

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

(2009) L. M. Dibbens 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

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

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

(2009) N. Le Meur et al.   JOURNAL OF MEDICAL GENETICS

High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L–DOCK4 gene region in autism susceptibility

(2009) E Maestrini et al.   MOLECULAR PSYCHIATRY

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

(2009) Marwan Shinawi et al.   NATURE GENETICS

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

(2009) Ingo Helbig et al.   NATURE GENETICS

Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder

(2009) Ayelet Erez et al.   NEUROGENETICS

Seizures and EEG findings in an adult patient with DiGeorge syndrome: A case report and review of the literature

(2009) Walter González et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Alterations in CDH15 and KIRREL3 in Patients with Mild to Severe Intellectual Disability

(2008) Kavita Bhalla et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disruption of Sodium Bicarbonate Transporter SLC4A10 in a Patient With Complex Partial Epilepsy and Mental Retardation

(2008) Christina A. Gurnett et al.   ARCHIVES OF NEUROLOGY

The array CGH and its clinical applications

(2008) Marwan Shinawi et al.   DRUG DISCOVERY TODAY

Genomic microarrays in mental retardation: A practical workflow for diagnostic applications

(2008) David A. Koolen et al.   HUMAN MUTATION

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

(2008) Hirotomo Saitsu et al.   NATURE GENETICS

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

(2008) Nicola Brunetti-Pierri et al.   NATURE GENETICS

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

(2008) Heather C. Mefford et al.   NEW ENGLAND JOURNAL OF MEDICINE

Spectrum of epilepsy in terminal 1p36 deletion syndrome

(2007) Nadia Bahi-Buisson et al.   EPILEPSIA