Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.

PubWeight™: 0.89‹?›

🔗 View Article (PMC 3033517)

Published in Hum Mutat on January 01, 2011

Authors

Christel Depienne1, Oriane Trouillard, Delphine Bouteiller, Isabelle Gourfinkel-An, Karine Poirier, François Rivier, Patrick Berquin, Rima Nabbout, Denys Chaigne, Dominique Steschenko, Agnès Gautier, Dorota Hoffman-Zacharska, Annie Lannuzel, Marilyn Lackmy-Port-Lis, Hélène Maurey, Anne Dusser, Marie Bru, Brigitte Gilbert-Dussardier, Agathe Roubertie, Anna Kaminska, Sandra Whalen, Cyril Mignot, Stéphanie Baulac, Gaetan Lesca, Alexis Arzimanoglou, Eric LeGuern

Author Affiliations

1: Département de génétique et cytogénétique, Hôpital de la Pitié-Salpêtrière, Paris, France. christel.depienne@upmc.fr

Articles citing this

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. Am J Hum Genet (2013) 1.40

Genetic testing in epilepsy: what should you be doing? Epilepsy Curr (2011) 1.39

A complex of Protocadherin-19 and N-cadherin mediates a novel mechanism of cell adhesion. J Cell Biol (2011) 1.07

Genetic variations and associated pathophysiology in the management of epilepsy. Appl Clin Genet (2011) 0.82

Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders. Neurogenetics (2013) 0.81

Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome. PLoS One (2012) 0.79

Cadherin-based transsynaptic networks in establishing and modifying neural connectivity. Curr Top Dev Biol (2015) 0.77

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. Mol Syndromol (2016) 0.76

Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR. Neurogenetics (2012) 0.76

Structural determinants of adhesion by Protocadherin-19 and implications for its role in epilepsy. Elife (2016) 0.75

Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERα). Hum Mol Genet (2017) 0.75

Tetraspanin 6: A novel regulator of hippocampal synaptic transmission and long term plasticity. PLoS One (2017) 0.75

Regulation of neural circuit formation by protocadherins. Cell Mol Life Sci (2017) 0.75

Male patients affected by mosaic PCDH19 mutations: five new cases. Neurogenetics (2017) 0.75

Articles cited by this

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet (2000) 5.05

Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. Brain (1997) 3.32

SRPX2 mutations in disorders of language cortex and cognition. Hum Mol Genet (2006) 2.34

The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain (2007) 2.30

Control of skeletal patterning by ephrinB1-EphB interactions. Dev Cell (2003) 2.11

Metabolic interference and the + - heterozygote. a hypothetical form of simple inheritance which is neither dominant nor recessive. Am J Hum Genet (1980) 2.09

The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis. Hum Reprod Update (2008) 2.04

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet (2008) 1.95

Epilepsy and mental retardation limited to females: an under-recognized disorder. Brain (2008) 1.94

Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet (2009) 1.81

Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. Am J Hum Genet (2004) 1.78

Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing. Nat Genet (1997) 1.68

A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. Am J Hum Genet (1998) 1.50

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome. J Med Genet (2010) 1.21

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. J Med Genet (2009) 0.96

A new familial form of convulsive disorder and mental retardation limited to females. J Pediatr (1971) 0.92

A familial form of convulsive disorder with or without mental retardation limited to females: extension of a pedigree limits possible genetic mechanisms. Clin Genet (1990) 0.86

Articles by these authors

ILAE official report: a practical clinical definition of epilepsy. Epilepsia (2014) 7.12

Definition of drug resistant epilepsy: consensus proposal by the ad hoc Task Force of the ILAE Commission on Therapeutic Strategies. Epilepsia (2009) 7.03

Treatment of pediatric epilepsy: European expert opinion, 2007. Epileptic Disord (2007) 5.59

Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet (2002) 4.84

Herpes simplex virus encephalitis in human UNC-93B deficiency. Science (2006) 4.26

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet (2012) 3.80

Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans. Cell (2007) 3.06

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. Nat Genet (2009) 3.01

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet (2012) 2.86

Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81

Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis. J Am Soc Nephrol (2011) 2.63

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nat Genet (2012) 2.63

Bevacizumab in patients with hereditary hemorrhagic telangiectasia and severe hepatic vascular malformations and high cardiac output. JAMA (2012) 2.56

β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain (2013) 2.40

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. Lancet Neurol (2013) 2.36

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet (2012) 2.34

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet (2002) 2.30

Vagus nerve stimulation for drug-resistant epilepsy: a European long-term study up to 24 months in 347 children. Epilepsia (2014) 2.15

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone. Nat Genet (2005) 2.05

Successful management of cataplexy with intravenous immunoglobulins at narcolepsy onset. Ann Neurol (2004) 2.03

Mutations of DEPDC5 cause autosomal dominant focal epilepsies. Nat Genet (2013) 1.91

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. Nat Genet (2013) 1.91

Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy. Hum Mutat (2007) 1.89

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. J Med Genet (2010) 1.85

Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. Hum Mol Genet (2010) 1.83

Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet (2009) 1.81

Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (rendu-osler disease). Respiration (2007) 1.79

Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method. Hum Mutat (2008) 1.78

Experimental designs for small randomised clinical trials: an algorithm for choice. Orphanet J Rare Dis (2013) 1.77

The genetics of Dravet syndrome. Epilepsia (2011) 1.77

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nat Genet (2001) 1.74

Psychiatric and cognitive difficulties as indicators of juvenile huntington disease onset in 29 patients. Arch Neurol (2007) 1.72

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am J Hum Genet (2012) 1.71

Epilepsy in autism is associated with intellectual disability and gender: evidence from a meta-analysis. Biol Psychiatry (2008) 1.69

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat (2007) 1.68

Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. Am J Hum Genet (2002) 1.64

Timing of antiepileptic drug withdrawal and long-term seizure outcome after paediatric epilepsy surgery (TimeToStop): a retrospective observational study. Lancet Neurol (2012) 1.60

Key clinical features to identify girls with CDKL5 mutations. Brain (2008) 1.59

A conserved switch in sensory processing prepares developing neocortex for vision. Neuron (2010) 1.55

Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. Am J Hum Genet (2007) 1.54

Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network. Genet Med (2007) 1.52

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations. Eur J Hum Genet (2012) 1.52

Evaluation of previously nonscreened hereditary hemorrhagic telangiectasia patients shows frequent liver involvement and early cardiac consequences. Hepatology (2008) 1.51

A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia. Am J Hum Genet (2010) 1.50

High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. J Med Genet (2013) 1.50

Nocturnal hypermotor seizures, suggesting frontal lobe epilepsy, can originate in the insula. Epilepsia (2006) 1.49

Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. Hum Mutat (2007) 1.48

The ketogenic diet improves recently worsened focal epilepsy. Dev Med Child Neurol (2008) 1.48

Greater response to placebo in children than in adults: a systematic review and meta-analysis in drug-resistant partial epilepsy. PLoS Med (2008) 1.48

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. Hum Mol Genet (2012) 1.48

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). Brain (2010) 1.47

Acute-onset chorea, dystonia, and cardiac fibroelastoma in a child: a paraneoplastic association? Mov Disord (2012) 1.44

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. Brain (2009) 1.44

Cryptogenic late-onset epileptic spasms: an overlooked syndrome of early childhood? Epilepsia (2006) 1.43

Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities. Cell Rep (2012) 1.43

The usefulness of capsulated 13C-urea breath test in diagnosis of Helicobacter pylori infection in patients with upper gastrointestinal bleeding. J Clin Gastroenterol (2003) 1.43

Hemiconvulsion-hemiplegia syndrome revisited: longitudinal MRI findings in 10 children. Dev Med Child Neurol (2013) 1.40

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. Am J Hum Genet (2013) 1.40

Seizures and epilepsy in hypoglycaemia caused by inborn errors of metabolism. Dev Med Child Neurol (2014) 1.39

FXTAS: new insights and the need for revised diagnostic criteria. Neurology (2012) 1.39

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor. Hum Mol Genet (2007) 1.36

Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders. Biol Psychiatry (2009) 1.32

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine. Neurology (2012) 1.32

Rapid cortical oscillations and early motor activity in premature human neonate. Cereb Cortex (2006) 1.31

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. Brain (2010) 1.30

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome. Brain (2013) 1.29

Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults. Brain (2010) 1.28

The mitochondrial complex I inhibitor rotenone triggers a cerebral tauopathy. J Neurochem (2005) 1.27

Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A. Brain (2008) 1.26

Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism. Epilepsia (2012) 1.25

Electroclinical characterization of epileptic seizures in leucine-rich, glioma-inactivated 1-deficient mice. Brain (2010) 1.24

Fever, genes, and epilepsy. Lancet Neurol (2004) 1.24

Zebrafish lacking Alzheimer presenilin enhancer 2 (Pen-2) demonstrate excessive p53-dependent apoptosis and neuronal loss. J Neurochem (2006) 1.23

Alternating hemiplegia of childhood: early characteristics and evolution of a neurodevelopmental syndrome. Pediatrics (2009) 1.23

SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. Epilepsia (2009) 1.23

Age-dependent Mendelian predisposition to herpes simplex virus type 1 encephalitis in childhood. J Pediatr (2010) 1.21

Early onset collagen VI myopathies: Genetic and clinical correlations. Ann Neurol (2010) 1.21

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C. Orphanet J Rare Dis (2012) 1.21

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures. Am J Med Genet A (2012) 1.21

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome. J Med Genet (2010) 1.21