CDKL5-associated developmental and epileptic encephalopathy: A long-term, longitudinal electroclinical study of 22 cases

The study was conducted to analyze the possible diagnostic value of the electroclinical semiology of the epileptic seizures. We evaluated the medical records of 17 females and 5 males with CDKL5 deficiency disorder (CDD) considering the long-term evolution, including the polygraphic video-EEG record...

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Published in:	Epilepsy research Vol. 190; p. 107098
Main Authors:	Darra, Francesca, Monchelato, Manuela, Loos, Mariana, Juanes, Matias, Bernardina, Bernardo Dalla, Valenzuela, Gabriela Reyes, Gallo, Adolfo, Caraballo, Roberto
Format:	Journal Article
Language:	English
Published:	Netherlands Elsevier B.V 01-02-2023
Subjects:	CDKL5 Developmental encephalopathy Electroencephalography Epilepsy - diagnosis Epilepsy - genetics Epileptic spams Female Humans Hypermotor seizures Hypsarrhythmia Infant Male Myoclonus Protein Serine-Threonine Kinases - genetics Seizures - diagnosis Seizures - genetics Spasm Spasms, Infantile - diagnosis Spasms, Infantile - genetics Developmental encephalopathy CDKL5 Myoclonus Hypermotor seizures Epileptic spams Hypsarrhythmia
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Summary:	The study was conducted to analyze the possible diagnostic value of the electroclinical semiology of the epileptic seizures. We evaluated the medical records of 17 females and 5 males with CDKL5 deficiency disorder (CDD) considering the long-term evolution, including the polygraphic video-EEG recordings. We recognized three disease phases. We found that the seizure semiology was already recognizable in the first phase of the syndrome. In the short-term evolution, all patients had focal motor and 12/21 hypermotor seizures. Both epileptic spasms and myoclonic seizures were already present in more than half of the cases in the first 2 months after onset. In the second phase, the intermediate period, the polymorphic pattern was maintained, but in eight patients the electroclinical pattern of epileptic encephalopathy with hypsarrhythmia appeared. In the long-term period, the seizure polymorphism continued but myoclonic and epileptic spasms diminished. Tonic seizures appeared in the last 2 phases. Progressively, with the aggravation of seizures and paroxysmal EEG abnormalities impairment of the neurocognitive status was observed. Severe behavioral disturbances were seen in eight and autistic-like features in 14. CDD is a true developmental and epileptic encephalopathy with a specific etiology characterized by the early appearance of epileptic seizures that quickly become polymorphic and drug resistant in infants that are most often female and already have neurological impairment. Polygraphic video-EEG recordings are important to recognize ictal events of the association of hypermotor seizures, epileptic spasms in clusters, and massive myoclonic jerks, already present at onset. •Children with CDD have polymorphic seizures with hypermotor seizures, epileptic spasms, and myoclonus.•They evolve to epileptic encephalopathy with or without a hypsarrhythmic pattern.•Electroclinical definition of CDD may lead to an earlier diagnosis of this single-gene syndrome.•Accurate polygraphic video-EEG analysis is important to define the seizure type in detail.•These patients are usually resistant to pharmacological and non-pharmacological treatment.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0920-1211 1872-6844
DOI:	10.1016/j.eplepsyres.2023.107098