Epilepsy and the new cytogenetics

Value for Money? Array Genomic Hybridization for Diagnostic Testing for Genetic Causes of Intellectual Disability

(2010) Dean A. Regier 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

A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of theTRPM1,CHRNA7, and other homozygously deleted genes

(2010) Jean-Baptiste LePichon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3

(2010) Sarah E. Heron et al.   EPILEPSIA

A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy

(2010) Hiltrud Muhle 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

Penetrance for copy number variants associated with schizophrenia

(2010) E. Vassos et al.   HUMAN MOLECULAR GENETICS

Genome-Wide Oligonucleotide Array Comparative Genomic Hybridization for Etiological Diagnosis of Mental Retardation

(2010) Bixia Xiang et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS

Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene

(2010) A. Suls et al.   NEUROLOGY

Genetically complex epilepsies, copy number variants and syndrome constellations

(2010) Heather C Mefford et al.   Genome Medicine

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

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

Validation of the Agilent 244K Oligonucleotide Array–Based Comparative Genomic Hybridization Platform for Clinical Cytogenetic Diagnosis

(2009) Shihui Yu et al.   AMERICAN JOURNAL OF CLINICAL PATHOLOGY

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

(2009) Andy Itsara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Late-onset Lennox-Gastaut syndrome in a patient with 15q11.2-q13.1 duplication

(2009) Alfredo Orrico et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Early onset myoclonic epilepsy and 15q26 microdeletion: Observation of the first case

(2009) Chiara Veredice et al.   EPILEPSIA

Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 includingCACNA1Aassociated with mental retardation and epilepsy with infantile spasms

(2009) Stéphane Auvin et al.   EPILEPSIA

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

(2009) Davide Mei et al.   EPILEPSIA

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

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases

(2009) Caroline Schluth-Bolard et al.   European Journal of Medical Genetics

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

"New microdeletion syndromes: complex, but no new paradigms"

(2009) D H Ledbetter   JOURNAL OF MEDICAL GENETICS

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

(2009) B W M van Bon et al.   JOURNAL OF MEDICAL GENETICS

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

Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures

(2009) H. Kurahashi et al.   NEUROLOGY

Chromosomal Microarray Interpretation: What Is a Child Neurologist to Do?

(2009) Alex R. Paciorkowski et al.   PEDIATRIC NEUROLOGY

Chipping away at the common epilepsies with complex genetics: the 15q13.3 microdeletion shows the way

(2009) John C Mulley et al.   Genome Medicine

Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

(2009) Christel Depienne et al.   PLoS Genetics

A catalog of SCN1A variants

(2008) Christoph Lossin   BRAIN & DEVELOPMENT

Microchromosomal deletions involvingSCN1Aand adjacent genes in severe myoclonic epilepsy in infancy

(2008) Ji-wen Wang et al.   EPILEPSIA

Private inherited microdeletion/microduplications: Implications in clinical practice

(2008) Maria Antonietta Mencarelli et al.   European Journal of Medical Genetics

Emerging themes and new challenges in defining the role of structural variation in human disease

(2008) Andrew J. Sharp   HUMAN MUTATION

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

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

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

(2008) Andrew J Sharp et al.   NATURE GENETICS

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

(2008) Leanne M Dibbens et al.   NATURE GENETICS

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

(2008) C. Cardoso et al.   NEUROLOGY