Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature.
Clinical features and electroencephalographic findings of two patients affected by a previously unreported cyclin-dependent kinase-like 5 (CDKL5) gene mutation are described. Both patients had the Hanefeld variant phenotype with early-onset seizures, but different degrees of clinical severity. In fact, patient 1 was not drug-resistant and is responding to a single drug. On the contrary, patient 2, like most reported cases, has severe epilepsy, exhibits electroencephalographic changes, and is drug resistant. We suggest that the pseudoperiodic patterns observed on the EEGs for these cases represent this genetic form of epilepsy, though differing in frequency, voltage, and associated patterns. This is in agreement with data reported by other authors indicating that no unique pattern can be identified in subjects with CDKL5 mutations. Thus, a CDKL5 investigation should be performed in developmentally delayed patients with early-onset seizures, including drug-resistant subjects with severe EEG changes, as well as in patients with milder, drug-responsive forms of epilepsy.
Department of Child Neuropsychiatry, G. Gaslini Hospital, University of Genoa, Genoa, Italy. mariapintaudi@hotmail.com
Maria
M
Pintaudi
Maria Giuseppina
MG
Baglietto
Roberto
R
Gaggero
Elena
E
Parodi
Alice
A
Pessagno
Margherita
M
Marchi
Silvia
S
Russo
Edvige
E
Veneselli
D002648:Child; D002658:Developmental Disabilities / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D004569:Electroencephalography; D004827:Epilepsy / Q000209:etiology / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D009154:Mutation / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D015518:Rett Syndrome / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D012720:Severity of Illness Index
D017346:Protein Serine-Threonine Kinases; C114482:CDKL5 protein, human