First report of Tunisian patients with CDKL5-related encephalopathy.
Chahnez Charfi TrikiSalma Zouari MallouliMarwa Ben JdilaMariem Ben SaidFatma Kamoun FekiSarah WeckhuysenSabeur MasmoudiFaiza FakhfakhPublished in: Epilepsia open (2023)
Our present report delineates an unusual phenotype of CDKL5-related encephalopathy with male gender predominance and delayed onset epilepsy. It interestingly described new phenotypic features and uncommon benign developmental profiles in boys, different patterns of CDKL5-epilepsy, neuroimaging findings and CDKL5 mutational spectru.
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