Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.
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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.Characterization of a KCNB1 variant associated with autism, intellectual disability, and epilepsy.Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.HRPU-2, a homologue of mammalian hnRNP U, regulates synaptic transmission by controlling the expression of SLO-2 potassium channel in C. elegans.Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death.Novel KCNB1 mutation associated with non-syndromic intellectual disability.Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings.Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene.De novo mutations in HNRNPU result in a neurodevelopmental syndrome.Clinical and molecular characterization of de novo loss of function variants in HNRNPU.Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life.Successful treatment of choreo-athetotic movements in a patient with an EEF1A2 gene variant
P2860
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P2860
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 30 July 2016
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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Targeted sequencing of 351 can ...... in a large cohort of patients.
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Targeted sequencing of 351 can ...... in a large cohort of patients.
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Targeted sequencing of 351 can ...... in a large cohort of patients.
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Targeted sequencing of 351 can ...... in a large cohort of patients.
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Targeted sequencing of 351 can ...... in a large cohort of patients.
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Targeted sequencing of 351 can ...... in a large cohort of patients.
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P2093
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Targeted sequencing of 351 can ...... in a large cohort of patients
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Anna-Elina E Lehesjoki
Bobby P C Koeleman
Carla Marini
EuroEPINOMICS RES Consortium
Eva H Brilstra
Hannah Stamberger
Ingo Helbig
Isaac J Nijman
Johannes R Lemke
Katia Hardies
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P304
P356
10.1002/MGG3.235
P577
2016-07-30T00:00:00Z