Universität zu Köln

Demarest, Scott T., Olson, Heather E., Moss, Angela, Pestana-Knight, Elia, Zhang, Xiaoming, Parikh, Sumit, Swanson, Lindsay C., Riley, Katherine D., Bazin, Grace A., Angione, Katie, Niestroj, Lisa-Marie, Lai, Dennis, Juarez-Colunga, Elizabeth and Benke, Tim A. (2019). CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development. Epilepsia, 60 (8). S. 1733 - 1743. HOBOKEN: WILEY. ISSN 1528-1167

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Abstract

Objective The cyclin-dependent kinase like 5 (CDKL5) gene is a known cause of early onset developmental and epileptic encephalopathy, also known as CDKL5 deficiency disorder (CDD). We sought to (1) provide a description of seizure types in patients with CDD, (2) provide an assessment of the frequency of seizure-free periods and cortical visual impairment (CVI), (3) correlate these features with genotype and gender, and (4) correlate these features with developmental milestones. Methods This is a cohort study of patients with CDD. Phenotypic features were explored and correlated with gene variant grouping and gender. A developmental score was created based on achieving seven primary milestones. Phenotypic variables were correlated with the developmental score to explore markers of better developmental outcomes. Multivariate linear regression was used to account for age at last visit. Results Ninety-two patients with CDD were seen during the enrollment period. Eighteen were male (19%); median age at last visit was 5 years (interquartile range = 2.0-11.0). Eighty-one percent of patients developed epileptic spasms, but only 47% of those also had hypsarrhythmia. Previously described hypermotor-tonic-spasms sequence was seen in only 24% of patients, but 56% of patients had seizures with multiple phases (often tonic and spasms). Forty-three percent of patients experienced a seizure-free period ranging from 1 to >12 months, but only 6% were still seizure-free at the last visit. CVI was present in 75% of all CDD patients. None of these features was associated with genotype group or gender. CVI was correlated with reduced milestone achievement after adjusting for age at last visit and a history of hypsarrhythmia. Significance The most common seizure types in CDD are epileptic spasms (often without hypsarrhythmia) and tonic seizures that may cluster together. CVI is a common feature in CDD and is correlated with achieving fewer milestones.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Demarest, Scott T. UNSPECIFIED UNSPECIFIED UNSPECIFIED Olson, Heather E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Moss, Angela UNSPECIFIED UNSPECIFIED UNSPECIFIED Pestana-Knight, Elia UNSPECIFIED UNSPECIFIED UNSPECIFIED Zhang, Xiaoming UNSPECIFIED UNSPECIFIED UNSPECIFIED Parikh, Sumit UNSPECIFIED UNSPECIFIED UNSPECIFIED Swanson, Lindsay C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Riley, Katherine D. UNSPECIFIED UNSPECIFIED UNSPECIFIED Bazin, Grace A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Angione, Katie UNSPECIFIED UNSPECIFIED UNSPECIFIED Niestroj, Lisa-Marie UNSPECIFIED UNSPECIFIED UNSPECIFIED Lai, Dennis UNSPECIFIED UNSPECIFIED UNSPECIFIED Juarez-Colunga, Elizabeth UNSPECIFIED UNSPECIFIED UNSPECIFIED Benke, Tim A. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-135039
DOI:	10.1111/epi.16285
Journal or Publication Title:	Epilepsia
Volume:	60
Number:	8
Page Range:	S. 1733 - 1743
Date:	2019
Publisher:	WILEY
Place of Publication:	HOBOKEN
ISSN:	1528-1167
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language FUNCTIONAL ABILITIES; INFANTILE SPASMS; MUTATIONS; PHENOTYPE; CHILDREN; ONSET; HYPSARRHYTHMIA; VARIANTS; FEATURES Multiple languages Clinical Neurology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/13503