Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90
Dhanya Lakshmi Narayanan(Manipal Academy of Higher Education), Anju Shukla(Manipal Academy of Higher Education), Ashwin Dalal(Nizam's Institute of Medical Sciences), Shrikiran Aroor(Manipal Academy of Higher Education), Purvi Majethia(Manipal Academy of Higher Education), Shahyan Siddiqui(Yashoda Hospital)
Cited by 15
Related Papers
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses
|Brain|2018|71
Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling
|European Journal of Human Genetics|2021|43
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of <i>KCNH5</i>
|Neurology|2022|23
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features
|European Journal of Human Genetics|2021|21
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India
|European Journal of Human Genetics|2023|18