Copy number variation plays an important role in clinical epilepsy

Investigation ofNRXN1deletions: Clinical and molecular characterization

(2013) Mindy Preston Dabell et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Exon-disrupting deletions ofNRXN1in idiopathic generalized epilepsy

(2013) Rikke S. Møller et al.   EPILEPSIA

Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features

(2013) Agatino Battaglia et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

PRRT2-related disorders: further PKD and ICCA cases and review of the literature

(2013) Felicitas Becker et al.   JOURNAL OF NEUROLOGY

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

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

Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders

(2012) Linh Duong et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC 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

Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy

(2012) Annapurna Poduri et al.   EPILEPSIA

Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions

(2012) Christian P Schaaf et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

(2012) Ronald J. Wapner et al.   NEW ENGLAND JOURNAL OF MEDICINE

Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters

(2011) Victoria Harrison et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature

(2011) Flavio Faletra 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

Clinical Significance of Rare Copy Number Variations in Epilepsy

(2011) Pasquale Striano   ARCHIVES OF NEUROLOGY

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

(2011) Anne Gregor et al.   BMC Medical Genetics

Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome

(2011) Hiltrud Muhle et al.   EPILEPSIA

CDKL5 alterations lead to early epileptic encephalopathy in both genders

(2011) Jao-Shwann Liang et al.   EPILEPSIA

An Emerging 1q21.1 Deletion-Associated Neurodevelopmental Phenotype

(2011) Lina Basel-Vanagaite et al.   JOURNAL OF CHILD NEUROLOGY

West syndrome associated with 14q12 duplications harboring FOXG1

(2011) P. Striano 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

Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy

(2010) Manju A. Kurian et al.   BRAIN

Delineation of 15q13.3 microdeletions

(2010) A Masurel-Paulet et al.   CLINICAL GENETICS

Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?

(2010) Feng Li et al.   European Journal of Medical Genetics

Clinical Genetic Testing for Patients With Autism Spectrum Disorders

(2010) Y. Shen et al.   PEDIATRICS

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

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

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

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

The Xp contiguous deletion syndrome and autism

(2009) Marwan Shinawi 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

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

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

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

Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformation

(2008) M.A.M. van Steensel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Microchromosomal deletions involvingSCN1Aand adjacent genes in severe myoclonic epilepsy in infancy

(2008) Ji-wen Wang et al.   EPILEPSIA

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

(2008) D T Miller et al.   JOURNAL OF MEDICAL GENETICS

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

(2008) F D Hannes et al.   JOURNAL OF MEDICAL 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

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

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

Girl With Partial Turner Syndrome and Absence Epilepsy

(2008) Helen Puusepp et al.   PEDIATRIC NEUROLOGY