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. Author manuscript; available in PMC: 2014 May 1.
Published in final edited form as: Pediatr Neurol. 2013 May;48(5):367–377. doi: 10.1016/j.pediatrneurol.2012.12.030

Table 3.

Summary of the clinical and molecular data of published males with CDKL5 mutations (n=10)

Reference [13] (pt III.3)* [20] (pt 1/8) [20] (pt 2/8) [20] [21] (pt 3/8) [22] [23] [25] (pt 1) [25] (pt 6) [25] (pt 9)
Ethnicity nd Italian Italian Italian nd nd nd nd nd nd
Age at assessment 16y 13y 9y 3y6m 4y 4y 2y8m 6m 1y9m 2y
Seizure onset Neonatal 3m 8m 2m 2m 15d 2m 1m 2w 3m
Seizure types ISS, LG ISS, MC, T, CPS CPS, ISS, T, MC T, ISS, CPS ISS, GTC, T, MC ISS, T, GTC, MC ISS, T, PS ISS Spasms ISS
Intractable epilepsy + + + + + + + + + +
CBR-CBL atrophy nd + − − + + + + + +
Abnormal movement s + + + − − + − nd − nd
Poor eye contact − + + − + + − nd nd nd
Tone Spastic quadriparesis Hypotonia nd Hypotonia Hypotonia Hypotonia Hypotonia No hypotonia Hypotonia Hypotonia
Earliest OFC-SD (age) Normal (birth) Normal (birth) Normal (birth.) nd Normal (birth) −1–2 (birth) Normal (birth) Normal (birth) −1 (birth) Normal (birth)
Last OFC- SD (age) −2 (14y) nd nd nd nd < 2 (2y) 0 (2y8m) nd nd nd
Postnatal MIC + nd nd nd nd + − − − −
Severe GDD + + + + + + + + + +
Other neurologic findings Cortical blindness, hyperventilation − Pyramidal signs, ataxia, echolalia − − breath- holding spells − nd nd nd
Other medical problems GER, constipation, kyphoscoliosis Mild facial DYSM − Mild facial DYSM − Mild facial DYSM − nd nd nd
Outcome Deceased at 16y (aspiration pneumonia) Alive Alive Alive Alive Alive Alive nd nd nd
Mutation/Deletion c.183del T (exon 5) c.872G> A (p.C291 Y) c.863C> T (p.T288I) c.872G> A (p.C291 Y) c.191T> C (p.L64P) c.1675C > T (p.R559 X) (47,XXY ) Balanced Xi (50%–50%) c.99+5G > A (somatic mosaicism) Exon1 deletion c.533G> A (p.R178 Q) c.1079de lT(p.L36 0Fs>367 X)
Type Frameshift Missense Missense Missense Missense Nonsense Splicing; frameshift Deletion Missense Frameshift
Inheritance De novo De novo De novo De novo nd nd Somatic mosaicism nd De novo nd
Family history 2 affected sisters (twins) Noncons anguinous parents; 1 healthy sib Noncons anguinous parents; first child Noncons anguinous parents; 2 SAB Noncons anguinous parents; 1 healthy sib Noncons anguinous parents; 1st child Noncons anguinous parents nd nd nd
*

This patient’s two sisters (twins; 19 y) had the same mutation. III.1 had profound DD, decreased OFC (50–98% at birth; 2–50% at 19y), epileptic encephalopathy (seizure onset 9 wks; ISS, later had GTC, myoclonic, and absence seizures), generalized spasticity, scoliosis, constipation. III.2 had mild DD (IQ ~ 70), autistic features. She had no seizures, or tone abnormalities. Family history is also remarkable for two still-births and one miscarriage.