Related references
Note: Only part of the references are listed.Investigation of NRXN1 deletions: Clinical and molecular characterization
Mindy Preston Dabell et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy
Rikke S. Moller et al.
EPILEPSIA (2013)
Confirmation of chromosomal microarray as a firsttier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.
Agatino Battaglia et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2013)
PRRT2-related disorders: further PKD and ICCA cases and review of the literature
Felicitas Becker et al.
JOURNAL OF NEUROLOGY (2013)
Copy number variants are frequent in genetic generalized epilepsy with intellectual disability
Saul A. Mullen et al.
NEUROLOGY (2013)
Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature
Flavio Faletra et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders
Linh Duong et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2012)
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders
Magdalena Bartnik et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2012)
Clinical Significance of Rare Copy Number Variations in Epilepsy A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization
Pasquale Striano et al.
ARCHIVES OF NEUROLOGY (2012)
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy
Annapurna Poduri et al.
EPILEPSIA (2012)
Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions
Christian P. Schaaf et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis
Ronald J. Wapner et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
Compound Heterozygous Deletion of NRXN1 Causing Severe Developmental Delay With Early Onset Epilepsy in Two Sisters
Victoria Harrison et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Rare copy number variants are an important cause of epileptic encephalopathies
Heather C. Mefford et al.
ANNALS OF NEUROLOGY (2011)
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
Anne Gregor et al.
BMC MEDICAL GENETICS (2011)
Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome
Hiltrud Muhle et al.
EPILEPSIA (2011)
CDKL5 alterations lead to early epileptic encephalopathy in both genders
Jao-Shwann Liang et al.
EPILEPSIA (2011)
An Emerging 1q21.1 Deletion-Associated Neurodevelopmental Phenotype
Lina Basel-Vanagaite et al.
JOURNAL OF CHILD NEUROLOGY (2011)
WEST SYNDROME ASSOCIATED WITH 14q12 DUPLICATIONS HARBORING FOXG1
P. Striano et al.
NEUROLOGY (2011)
Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes
Erin L. Heinzen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
David T. Miller et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
Carolien G. F. de Kovel et al.
BRAIN (2010)
Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy
Manju A. Kurian et al.
BRAIN (2010)
Delineation of 15q13.3 microdeletions
A. Masurel-Paulet et al.
CLINICAL GENETICS (2010)
Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?
Feng Li et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2010)
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
Marwan Shinawi et al.
JOURNAL OF MEDICAL GENETICS (2010)
Clinical Genetic Testing for Patients With Autism Spectrum Disorders
Yiping Shen et al.
PEDIATRICS (2010)
Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies
Heather C. Mefford et al.
PLOS GENETICS (2010)
Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease
Andy Itsara et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
The Xp Contiguous Deletion Syndrome and Autism
Marwan Shinawi et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance
Leanne M. Dibbens et al.
HUMAN MOLECULAR GENETICS (2009)
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders
D. T. Miller et al.
JOURNAL OF MEDICAL GENETICS (2009)
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
F. D. Hannes et al.
JOURNAL OF MEDICAL GENETICS (2009)
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
Ingo Helbig et al.
NATURE GENETICS (2009)
Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures
H. Kurahashi et al.
NEUROLOGY (2009)
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
M. A. M. van Steensel et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
Microchromosomal deletions involving SCNIA and adjacent genes in severe myoclonic epilepsy in infancy
Ji-wen Wang et al.
EPILEPSIA (2008)
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
Nicola Brunetti-Pierri et al.
NATURE GENETICS (2008)
Association between microdeletion and microduplication at 16p11.2 and autism
Lauren A. Weiss et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
Girl with partial Turner syndrome and absence epilepsy
Helen Puusepp et al.
PEDIATRIC NEUROLOGY (2008)
Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures
S. E. Heron et al.
JOURNAL OF MEDICAL GENETICS (2007)
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype
Lorraine Potocki et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
A male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus:: Limit of viability of Xp deletions in males
Volker O. Melichar et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
A new molecular mechanism for severe myoclonic epilepsy of infancy:: Exonic deletions in SCN1A
J. C. Mulley et al.
NEUROLOGY (2006)
An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits
MJ Doherty et al.
EPILEPSIA (2003)
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy
P Cossette et al.
NATURE GENETICS (2002)
Absence of learning difficulties in a hyperactive boy with a terminal Xp deletion encompassing the MRX49 locus
ES Tobias et al.
JOURNAL OF MEDICAL GENETICS (2001)
Coding and noncoding variation of the human calcium-channel β4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia
A Escayg et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)