Associated Papers
Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment.
Thakran S et al.
International Journal of Molecular Sciences, 2020
Phenotypic variability of GLUT1 deficiency: When is necessary to suspect?
Narváez C et al.
Revista Chilena De Pediatria, 2020
Clinical and Genetic Heterogeneity in a Cohort of Chinese Children With Dopa-Responsive Dystonia.
Chen Y et al.
Frontiers in Pediatrics, 2020
A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C.
Çolak R et al.
Balkan Medical Journal, 2017
ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.
Bennett CA et al.
Neurology. Genetics, 2017
28717674 (PubMed )
Supplement: supp_3.4.e163_Table_e-1.xlsx › Strong_segregation_support
Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.
Møller RS et al.
Neurology, 2017
The molecular biology of genetic-based epilepsies.
Deng H et al.
Molecular Neurobiology, 2014
GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy.
Striano P et al.
Neurology, 2012
Germline mutations in the von Hippel-Lindau disease (VHL) gene in mainland Chinese families.
Zhang J et al.
Journal of Cancer Research and Clinical Oncology, 2008
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