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Epilepsy
CDKL5 and ARX mutations in males with early-onset epilepsy.
Early Infantile Epileptic Encephalopathy (EIEE) Panel
Epilepsy
Epilepsy Exome
Glucose Transporter Type 1 Deficiency Testing (SLC2A1)
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
Neuronal Ceroid-Lipofuscinoses Panel
Non syndromic mental retardation and cryptogenic epilepsy in females with DCX mutations.
Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX.
Rett/Angelman Syndrome Panel
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