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KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy
TLDR
This study investigated whether KCNQ2/3 mutations are a frequent cause of epileptic encephalopathies with an early onset and whether a recognizable phenotype exists.
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1
TLDR
Co-occurring PED and epilepsy can be due to autosomal dominant heterozygous SLC2A1 mutations, expanding the phenotypic spectrum associated with GLUT1 deficiency and providing a potential new treatment option for this clinical syndrome.
GRIN2B Mutations in West Syndrome and Intellectual Disability with Focal Epilepsy
TLDR
To identify novel epilepsy genes using a panel approach and describe the functional consequences of mutations, a large number of mutations are identified using a single gene-based approach.
Dominant‐negative effects of KCNQ2 mutations are associated with epileptic encephalopathy
TLDR
The disease mechanism of 7 de novo missense KCNQ2 mutations that were recently described in patients with a severe epileptic encephalopathy including pharmacoresistant seizures and pronounced intellectual disability is determined.
De novo mutations in HCN1 cause early infantile epileptic encephalopathy
TLDR
Exome sequencing for parent-offspring trios with fever-sensitive, intractable epileptic encephalopathy led to the discovery of two de novo missense HCN1 mutations, providing clear evidence that de noVOHCN1 point mutations cause a recognizable early-onset epilepticEncephalopathy in humans.
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.
TLDR
The present results indicate an involvement of micro deletions at 15q11.2 and 16p13.11 in epileptogenesis and strengthen the evidence that recurrent microdeletions in this cohort confer a pleiotropic susceptibility effect to a broad range of neuropsychiatric disorders.
The genetics of Dravet syndrome
TLDR
Dravet syndrome has a genetic etiology: between 70% and 80% of patients carry sodium channel α1 subunit gene (SCN1A) abnormalities, and truncating mutations account for about 40% and have a significant correlation with an earlier age of seizures onset.
Extending the KCNQ2 encephalopathy spectrum
TLDR
Based on seizure frequency at onset and cognitive outcome, patients present with a wide spectrum of severity and, although rare, infantile epilepsy onset is possible, the spectrum of KCNQ2 encephalopathy is expanded to patients with moderate intellectual disability and/or infrequent seizures at onset.
GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome
TLDR
It is shown that GABRA1 and STXBP1 make a significant contribution to Dravet syndrome after SCN1A abnormalities have been excluded, and this has important implications for diagnostic testing, clinical management, and genetic counseling of patients with this devastating disorder and their families.
Early‐onset absence epilepsy caused by mutations in the glucose transporter GLUT1
TLDR
Findings suggest GLUT1 deficiency underlies a significant proportion of early‐onset absence epilepsy, which has both genetic counseling and treatment implications because the ketogenic diet is effective in GLut1 deficiency.
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