Two years after Naya started missing developmental milestones—and nearly a year after a neurologist first suggested genetic testing—the Edouard family finally has answers, thanks to the Behind the Seizure® program.
If a positive result is identified, testing for your patient’s family members is available.
Simply follow the ordering instructions, selecting only the gene(s) you are interested in testing for the family member. The partner code will automatically be added with the order.
References
Pal DK, et al. Genetic evaluation and counseling for epilepsy. Nat Rev Neurol. 2010;6:445-453.
Amadori E, Scala M, Cereda GS, et al. Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' project. Ital J Pediatr. 2020;46(1):92. Published 2020 Jul 6. doi:10.1186/s13052-020-00860-1
Specchio N, Pietrafusa N, Trivisano M. Changing Times for CLN2 Disease: The Era of Enzyme Replacement Therapy. Ther Clin Risk Manag. 2020 Mar 30;16:213-222. doi: 10.2147/TCRM.S241048. PMID: 32280231; PMCID: PMC7127909.. 2016 Aug;12(8):465-76.
Kaur S, Christodoulou J. MECP2 Disorders. 2001 Oct 3 [updated 2019 Sep 19]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. PMID: 20301670.. 2016 Aug;12(8):465-76.
Truty R et al. Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy. Epilepsia Open. 2019;10:28.