Table 1.
Demographic, genetic, developmental, epilepsy, and MRI findings in 18 individuals with PURA syndrome.
| ID | Sex/Age at study | PURA mutation /amino acid substitution | Developmental history | Epilepsy | Brain MRI | Other neurologic history |
|---|---|---|---|---|---|---|
| DB13-043 | F/5y | c.596G>C p.Arg199Pro | GDD, infantile hypotonia, ambulatory | Yes | Thin white matter, increased XAX | Nystagmus |
| DB15-021 | M/14y | c.683A>G, Asp228Ser c.796A>T p.Lys266* | GDD, infantile hypotonia, ambulatory | Yes, Lennox-Gastaut syndrome | Enlarged lateral ventricles, cyst right massa intermedia | Nystagmus |
| DB15-023 | M/1.5y | c.593dupT | GDD, neonatal hypotonia, not yet sitting up on own | No | ND | Nystagmus |
| DB15-027 | M/4y | c.697_699del p.Phe233del |
Hypotonia, GDD, ambulatory | No | Thin white matter, increased posterior fossa XAX | Cortical visual impairment |
| DB15-030 | M/12y | c.419G>C / p.Arg140Pro | Infantile hypotonia, autism diagnosis at age 11 years, ambulatory | Yes, epilepsy onset at 5 years. Currently treated with levetiracetam. | Normal | Ataxic gait |
| DB15-033 | F/1.5y | c.502del / p.Leu168Cysfs* | Hypotonia, slow feeding at birth | Yes, infantile spasms at 11 months, responded to vigabatrin. Currently on lamotrigine, no further seizures | Thin corpus callosum, immature white matter, right perihippocampal cyst | Nystagmus |
| DB15-035 | F/3y | c.458G>C / p.Arg153Pro | Neonatal hypotonia, ambulatory with frequent falls | No | Underdevelopment of white matter, mildly dilated lateral ventricles | |
| DB15-037 | M/13.5y | c.264delC / p.Ile188Metfs*137 | GDD, infantile hypotonia, ambulatory at age 4 yrs, but more trouble walking over past 2 years | Yes. Generalized tonic-clonic seizures, on levetiracetam, topiramate | Normal | |
| DB15-045 | M/7y | c.218T>C / p.Phe73Ser | GDD, infantile hypotonia, ambulatory at age 4 yrs | No | ND | Exaggerated startle response since newborn |
| DB16-002 | F/15y | c.382C>T / p.Gln128* | GDD, infantile hypotonia, ambulatory | No | Mild cerebellar tonsillar ectopia | Strabismus, exaggerated startle response |
| DB16-003 | F/2.5y | c.745delG / p.Val249* | GDD, infantile hypotonia, not yet ambulatory | No | Mildly dilated lateral ventricles | Nystagmus |
| DB16-009 | M/11 mo | c.759T>G,p.Tyr253Lys | Props in sitting position, infantile hypotonia | No | Normal | |
| DB16-012 | M/8y | c.159_182dup p.Gln55Alafs*147 | GDD, infantile hypotonia, ambulatory at age 4 yrs. Falls frequently. No speech. | Yes, neonatal seizures, then complex partial seizures onset at 6 years. Currently treated with levetiracetam. | ND | Exaggerated startle response since infancy. Some anxiety. |
| DB16-016 | F/27y | c.7_11delGACCG / p.Asp3Argfs*196 | GDD, infantile hypotonia, was independently ambulatory but decline in ability to walk and interact since onset of epilepsy | Yes, onset at age 16 years, multiple seizure types: complex partial seizures, drop seizures, generalized tonic-clonic seizures | Normal | Exaggerated startle |
| DB16-017 | F/4y | chr5:139494213-139494221 GCGCGAGAA > G / p.Arg150Profs*48 | GDD, infantile hypotonia. Ambulatory. | Yes, infantile spasms at 1 year of age. Treated with vigabatrin, then ACTH. | ND | |
| DB16-032 | F/13m | c.697_699delTTC / p.Phe233del | GDD, neonatal hypotonia | Yes, seizures during first 2 weeks after birth | ND | |
| DB16-035 | M/1.8y | c.367C>T / p.Gln123* | GDD, neonatal hypotonia | No | Low central white matter volume | Bilateral axonal motor neuropathy |
| DB16-043 | M/10.6y | c.159delG / p.Leu54Cysfs*24 | GDD, infantile hypotonia, no speech, began walking with support at age 7y | Spells without electrographic correlate | ND | Exaggerated startle response since infancy |
Abbreviations: GDD = global developmental delay; XAX = extra-axial fluid; PDD = pervasive developmental disability; ACTH = adrenocorticotropic hormone; ND = no data