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A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasiaFamilial endometrial cancer in female carriers of MSH6 germline mutationsA novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 yearsIdentification of the tuberous sclerosis gene TSC1 on chromosome 9q34Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsiesGenome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.Epidemiology, pathophysiology and putative genetic basis of carbamazepine- and oxcarbazepine-induced hyponatremia.Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus.A new coding system for metabolic disorders demonstrates gaps in the international disease classifications ICD-10 and SNOMED-CT, which can be barriers to genotype-phenotype data sharing.A retrospective population-based study on seizures related to childhood vaccination.Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsiesPeutz-Jeghers syndrome: 78-year follow-up of the original family.Charcot-Marie-Tooth diseasePhenotypic analysis of triphalangeal thumb and associated hand malformationsStructural genomic variation in childhood epilepsies with complex phenotypesDose-dependent risk of malformations with antiepileptic drugs: an analysis of data from the EURAP epilepsy and pregnancy registry.Association study of TRPC4 as a candidate gene for generalized epilepsy with photosensitivity.Mutations in WNT10A are present in more than half of isolated hypodontia cases.15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.Heterogeneity at the JME 6p11-12 locus: absence of mutations in the EFHC1 gene in linked Dutch families.Genetics of photosensitivity (photoparoxysmal response): a review.Molecular characterization of WFS1 in patients with Wolfram syndromeRemarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological ApproachBilateral hereditary micro-epiphyseal dysplasia: further delineation of the phenotype with 40 years follow-upFebrile temperatures unmask biophysical defects in Nav1.1 epilepsy mutations supportive of seizure initiation.Possible role of the innate immunity in temporal lobe epilepsy.Male patients affected by mosaic PCDH19 mutations: five new cases.Carbamazepine- and oxcarbazepine-induced hyponatremia in people with epilepsy.Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions.Favourable mutation test outcomes for individuals at risk for Huntington disease change the perspectives of first-degree relatives.Effect of vaccinations on seizure risk and disease course in Dravet syndrome.Adult patients with spina bifida cystica: genetic counselling, pregnancy and delivery.Genetics of limb development and congenital hand malformations.Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.Whole-genome linkage scan for epilepsy-related photosensitivity: a mega-analysis.In-utero exposure to valproate and neural tube defects.Drug monitoring of lamotrigine and oxcarbazepine combination during pregnancy.[Diagnosis of fetal alcohol spectrum disorders].
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