Pages that link to "Q61819699"
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The following pages link to Rikke S Møller (Q61819699):
Displaying 50 items.
- De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome (Q24600816) (← links)
- Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. (Q24602558) (← links)
- Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies (Q28647874) (← links)
- Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. (Q29417109) (← links)
- Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients (Q30555468) (← links)
- Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients (Q31141777) (← links)
- Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies (Q33569995) (← links)
- Structural genomic variation in childhood epilepsies with complex phenotypes (Q33765211) (← links)
- Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development. (Q34326942) (← links)
- Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy (Q34418788) (← links)
- A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy (Q34448160) (← links)
- Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency. (Q34482877) (← links)
- 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy (Q34519312) (← links)
- The phenotypic spectrum of SCN8A encephalopathy (Q35106483) (← links)
- De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy (Q35235370) (← links)
- CHD2 variants are a risk factor for photosensitivity in epilepsy (Q35529727) (← links)
- MECP2 Duplication Syndrome: Evidence of Enhanced Oxidative Stress. A Comparison with Rett Syndrome (Q35940880) (← links)
- Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures (Q36061586) (← links)
- Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly (Q36718950) (← links)
- Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. (Q36982009) (← links)
- Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. (Q37257128) (← links)
- Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome. (Q37356173) (← links)
- Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies (Q37356251) (← links)
- De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy (Q37604522) (← links)
- Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU. (Q37714586) (← links)
- GABRA1 and STXBP1: novel genetic causes of Dravet syndrome (Q37725930) (← links)
- High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations. (Q38500985) (← links)
- The contribution of next generation sequencing to epilepsy genetics. (Q38632636) (← links)
- Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties (Q38852106) (← links)
- Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. (Q38853247) (← links)
- GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects (Q38854549) (← links)
- Epilepsy in patients with GRIN2A alterations: Genetics, neurodevelopment, epileptic phenotype and response to anticonvulsive drugs (Q39007936) (← links)
- Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy (Q39200166) (← links)
- Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies. (Q39493334) (← links)
- Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy (Q39648328) (← links)
- X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome. (Q40156896) (← links)
- Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes (Q40184593) (← links)
- The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. (Q41149745) (← links)
- Precision Medicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers. (Q41776266) (← links)
- Fluorescently labelled bovine acyl-CoA-binding protein acting as an acyl-CoA sensor: interaction with CoA and acyl-CoA esters and its use in measuring free acyl-CoA esters and non-esterified fatty acids (Q41986485) (← links)
- Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy (Q42605170) (← links)
- Aberrant expression of miR-218 and miR-204 in human mesial temporal lobe epilepsy and hippocampal sclerosis-convergence on axonal guidance (Q42775825) (← links)
- The role of SLC2A1 in early onset and childhood absence epilepsies. (Q44638727) (← links)
- Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy. (Q46199831) (← links)
- Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies. (Q46352293) (← links)
- Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy (Q46405759) (← links)
- Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy (Q46499520) (← links)
- Defining the phenotypic spectrum of SLC6A1 mutations (Q47189755) (← links)
- Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care (Q47210500) (← links)
- Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis. (Q47558052) (← links)