Infantile Spasm Syndrome-2, X-linked

X-linked early infantile epileptic encephalopathy (EIEE2) is characterized by intractable early-onset tonic seizures or spasms. This disorder is genetically heterogeneous, with up to a fifth of cases resulting from mutations in the CDKL5 gene. The majority of patients with CDKL5 mutations are female. Females with CDKL5 mutations typically present with drug-resistant seizures that begin before 6 months of age, and more than 90% show a phenotype before the end of the first year. Up to 70% of affected females develop infantile spasms (IS), often in conjunction with hypsarrythmia, and in some cases, they are diagnosed with West syndrome.4,7,11 Some females also present with autism, hypotonia, and developmental delay.1-5 Some of these patients have features reminiscent of Rett syndrome, including breathing dysfunction, deceleration of head growth and stereotypic hand movements. However, unlike those with Rett syndrome, patients with CDKL5 mutations do not demonstrate developmental regression with loss of language and motor skills after normal development in the first year of life. An Angelman syndrome-like phenotype has also been observed in some female patients.1,2,11,12 Male individuals with a CDKL5 mutation typically also develop epileptic encephalopathy characterized by severe intractable seizures and intellectual disability in the absence of other signs.

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Test Details

ADSL, ALDH5A1, ALDH7A1, ALG13, ARHGEF9, ARX, ASNS, ATP1A3, ATP6AP2, ATRX, BRAT1, CACNA1A, CASK, CDKL5, CHD2, CHRNA7, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CTSD, DDX3X, DEPDC5, DNM1, DYRK1A, EEF1A2, EHMT1, FOLR1, FOXG1, FRRS1L, GABBR2, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GLDC, GNAO1, GRIN1, GRIN2A, GRIN2B, HNRNPU, IQSEC2, KANSL1, KCNA2, KCNB1, KCNH1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM6A, KIAA2022, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NALCN, NGLY1, NPRL3, NR2F1, NRXN1, PACS1, PCDH19, PIGA, PIGN, PIGO, PIGV, PLCB1, PNKP, PNPO, POLG, PPP2R5D, PPT1, PRRT2, PURA, QARS, SCN1A, SCN1B, SCN2A, SCN8A, SLC13A5, SLC19A3, SLC25A22, SLC2A1, SLC6A1, SLC6A8, SLC9A6, SMC1A, SPATA5, SPTAN1, STX1B, STXBP1, SYNGAP1, SZT2, TBC1D24, TBL1XR1, TCF4, TPP1, TSC1, TSC2, UBE3A, WDR45, WWOX, ZEB2
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with epilepsy
  • Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

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541
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

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