From: W44X mutation in the WWOX gene causes intractable seizures and developmental delay: a case report
 | Our study | Mylene valduga et al. [12]a | Ben Salem et al. [9] | Mignot et al. [11] | Abdel-Salam et al. [8] | Mallaret et al. [10] |
---|---|---|---|---|---|---|
No of Families | 1 | 1 | 1 | 4 | 1 | 2 |
No of pts | 2 | 2 | 1 | 5 | 1 | 4 |
Gender | 2F | 1F-1M | 1M | 4F-1M | F | 3F-1M |
Consanguinity | + | + | + | - | + | + |
Ethnicity | Qatari | Turkish | Emirati | NA | Egyptian | Saudi-Palestinian |
Acquired microcephaly | - | + | + | (3/5 - ) (2/5 +)b | + | NA |
Neonatal hypotonia | - | - | + | + | + | NA |
Psychomotor delay | + | + | + | + | + | + |
Cerebellar ataxia | - | - | - | - | - | + |
Spasticity | + | + | + | 3/5 (-), 2/5 (+) | + | - |
DTR | Exaggerated | Exaggerated | Exaggerated | 3/5 Normal, 2/5 exaggeratedc | Exaggerated | Diminished |
Ophthalmological involvement | + | + | + | 3+, 2- | + | + |
Age of onset of epilepsy | 2 month | 3 month | 2 weeks | Between <2m and 5m | Yes (2 month) | (9–12 m) |
Seizure type | Myoclonic seizure | Infantile spasm | Infantile spasm | Focal and generalized tonic clonic and myoclonic | Focal and generalized tonic clonic and myoclonic | Generalized tonic-clonic |
Response to antiepileptics | Partial | Partial | Yes | Partial | Partial | Yes (2/4), partial (2/4) |
Brain MRI | Brain atrophy. | Brain atrophy. | Brain atrophy and polymicrogyria on the right frontoparietal region | Brain atrophy, 2 Normald | Brain atrophy | Posterior white matter hyperintensities |
Premature death | - | + | - | 2 (+)-3(-) | + | - |