CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development
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 frequenc...
Gespeichert in:
| Veröffentlicht in: | Epilepsia (Copenhagen) 2019-08, Vol.60 (8), p.1733-1742 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 1742 |
|---|---|
| container_issue | 8 |
| container_start_page | 1733 |
| container_title | Epilepsia (Copenhagen) |
| container_volume | 60 |
| creator | 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 Lal, Dennis Juarez‐Colunga, Elizabeth Benke, Tim A. |
| description | 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. |
| doi_str_mv | 10.1111/epi.16285 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7098045</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2269069244</sourcerecordid><originalsourceid>FETCH-LOGICAL-c5095-835a93b3007f2a121ba92f1d9011145f2758a553ac92893e6fe8210df02d08753</originalsourceid><addsrcrecordid>eNp1kV9rFDEUxUOp2HX1oV-gBPqisNPmz2Ym8UGQtWpxQRH7HLKZO23KTDJNZrbMtzfbrUULJg8Xkh_nnnsPQseUnNF8zqF3Z7RkUhygGRVMFpSW1SGaEUJ5oYQkR-hVSreEkKqs-Et0xGm-TPIZCqtP39YC19A468DbCdcuhVhDfI9_QmsGF3y6cT3ewHAP4PE1-DBMPSxw7tpCn6YFtiEOzpoWb10ac3Fdb1zswA8LbHyd1bfQhn738Bq9aEyb4M1jnaOrzxe_Vl-L9fcvl6uP68IKokQhuTCKb3h23DBDGd0YxRpaK5LnXYqGVUIaIbixiknFoWxAMkrqhrCayErwOfqw1-3HTQe1za2jaXUfXWfipINx-t8f7270ddjqiihJljuBt48CMdyNkAbduWShbY2HMCbNmFBccJIXOkenz9DbMEafx8tUqUip2HKZqXd7ysaQUoTmyQwlehejzgvVDzFm9uRv90_kn9wycL4H7nMG0_-V9MWPy73kb5z5p1E</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2269069244</pqid></control><display><type>article</type><title>CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development</title><source>MEDLINE</source><source>Wiley Online Library Journals Frontfile Complete</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>Wiley Free Content</source><source>Alma/SFX Local Collection</source><creator>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 ; Lal, Dennis ; Juarez‐Colunga, Elizabeth ; Benke, Tim A.</creator><creatorcontrib>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 ; Lal, Dennis ; Juarez‐Colunga, Elizabeth ; Benke, Tim A.</creatorcontrib><description>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.</description><identifier>ISSN: 0013-9580</identifier><identifier>EISSN: 1528-1167</identifier><identifier>DOI: 10.1111/epi.16285</identifier><identifier>PMID: 31313283</identifier><language>eng</language><publisher>United States: Wiley Subscription Services, Inc</publisher><subject>Age ; Age Factors ; CDKL5 deficiency disorder ; Child ; Child, Preschool ; Convulsions & seizures ; Cortex ; cortical visual impairment ; Deficiency diseases ; Developmental Disabilities - etiology ; Developmental Disabilities - genetics ; Encephalopathy ; Epilepsy ; Epilepsy - etiology ; Epilepsy - genetics ; Epileptic Syndromes - complications ; Epileptic Syndromes - genetics ; Female ; Gender ; Genetic Association Studies ; Genotype & phenotype ; Genotypes ; Humans ; hypermotor‐tonic‐spasms sequence ; hypsarrhythmia ; Male ; Protein Serine-Threonine Kinases - genetics ; Protein Serine-Threonine Kinases - physiology ; Seizures ; Sex Factors ; spasms ; Spasms, Infantile - complications ; Spasms, Infantile - genetics ; Vision Disorders - etiology ; Vision Disorders - genetics ; Visual impairment</subject><ispartof>Epilepsia (Copenhagen), 2019-08, Vol.60 (8), p.1733-1742</ispartof><rights>Wiley Periodicals, Inc. © 2019 International League Against Epilepsy</rights><rights>Wiley Periodicals, Inc. © 2019 International League Against Epilepsy.</rights><rights>Copyright © 2019 International League Against Epilepsy</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c5095-835a93b3007f2a121ba92f1d9011145f2758a553ac92893e6fe8210df02d08753</citedby><cites>FETCH-LOGICAL-c5095-835a93b3007f2a121ba92f1d9011145f2758a553ac92893e6fe8210df02d08753</cites><orcidid>0000-0002-4544-3724 ; 0000-0002-6986-0549</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fepi.16285$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fepi.16285$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>230,314,777,781,882,1412,1428,27905,27906,45555,45556,46390,46814</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/31313283$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Demarest, Scott T.</creatorcontrib><creatorcontrib>Olson, Heather E.</creatorcontrib><creatorcontrib>Moss, Angela</creatorcontrib><creatorcontrib>Pestana‐Knight, Elia</creatorcontrib><creatorcontrib>Zhang, Xiaoming</creatorcontrib><creatorcontrib>Parikh, Sumit</creatorcontrib><creatorcontrib>Swanson, Lindsay C.</creatorcontrib><creatorcontrib>Riley, Katherine D.</creatorcontrib><creatorcontrib>Bazin, Grace A.</creatorcontrib><creatorcontrib>Angione, Katie</creatorcontrib><creatorcontrib>Niestroj, Lisa‐Marie</creatorcontrib><creatorcontrib>Lal, Dennis</creatorcontrib><creatorcontrib>Juarez‐Colunga, Elizabeth</creatorcontrib><creatorcontrib>Benke, Tim A.</creatorcontrib><title>CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development</title><title>Epilepsia (Copenhagen)</title><addtitle>Epilepsia</addtitle><description>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.</description><subject>Age</subject><subject>Age Factors</subject><subject>CDKL5 deficiency disorder</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Convulsions & seizures</subject><subject>Cortex</subject><subject>cortical visual impairment</subject><subject>Deficiency diseases</subject><subject>Developmental Disabilities - etiology</subject><subject>Developmental Disabilities - genetics</subject><subject>Encephalopathy</subject><subject>Epilepsy</subject><subject>Epilepsy - etiology</subject><subject>Epilepsy - genetics</subject><subject>Epileptic Syndromes - complications</subject><subject>Epileptic Syndromes - genetics</subject><subject>Female</subject><subject>Gender</subject><subject>Genetic Association Studies</subject><subject>Genotype & phenotype</subject><subject>Genotypes</subject><subject>Humans</subject><subject>hypermotor‐tonic‐spasms sequence</subject><subject>hypsarrhythmia</subject><subject>Male</subject><subject>Protein Serine-Threonine Kinases - genetics</subject><subject>Protein Serine-Threonine Kinases - physiology</subject><subject>Seizures</subject><subject>Sex Factors</subject><subject>spasms</subject><subject>Spasms, Infantile - complications</subject><subject>Spasms, Infantile - genetics</subject><subject>Vision Disorders - etiology</subject><subject>Vision Disorders - genetics</subject><subject>Visual impairment</subject><issn>0013-9580</issn><issn>1528-1167</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kV9rFDEUxUOp2HX1oV-gBPqisNPmz2Ym8UGQtWpxQRH7HLKZO23KTDJNZrbMtzfbrUULJg8Xkh_nnnsPQseUnNF8zqF3Z7RkUhygGRVMFpSW1SGaEUJ5oYQkR-hVSreEkKqs-Et0xGm-TPIZCqtP39YC19A468DbCdcuhVhDfI9_QmsGF3y6cT3ewHAP4PE1-DBMPSxw7tpCn6YFtiEOzpoWb10ac3Fdb1zswA8LbHyd1bfQhn738Bq9aEyb4M1jnaOrzxe_Vl-L9fcvl6uP68IKokQhuTCKb3h23DBDGd0YxRpaK5LnXYqGVUIaIbixiknFoWxAMkrqhrCayErwOfqw1-3HTQe1za2jaXUfXWfipINx-t8f7270ddjqiihJljuBt48CMdyNkAbduWShbY2HMCbNmFBccJIXOkenz9DbMEafx8tUqUip2HKZqXd7ysaQUoTmyQwlehejzgvVDzFm9uRv90_kn9wycL4H7nMG0_-V9MWPy73kb5z5p1E</recordid><startdate>201908</startdate><enddate>201908</enddate><creator>Demarest, Scott T.</creator><creator>Olson, Heather E.</creator><creator>Moss, Angela</creator><creator>Pestana‐Knight, Elia</creator><creator>Zhang, Xiaoming</creator><creator>Parikh, Sumit</creator><creator>Swanson, Lindsay C.</creator><creator>Riley, Katherine D.</creator><creator>Bazin, Grace A.</creator><creator>Angione, Katie</creator><creator>Niestroj, Lisa‐Marie</creator><creator>Lal, Dennis</creator><creator>Juarez‐Colunga, Elizabeth</creator><creator>Benke, Tim A.</creator><general>Wiley Subscription Services, Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-4544-3724</orcidid><orcidid>https://orcid.org/0000-0002-6986-0549</orcidid></search><sort><creationdate>201908</creationdate><title>CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development</title><author>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 ; Lal, Dennis ; Juarez‐Colunga, Elizabeth ; Benke, Tim A.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c5095-835a93b3007f2a121ba92f1d9011145f2758a553ac92893e6fe8210df02d08753</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>Age</topic><topic>Age Factors</topic><topic>CDKL5 deficiency disorder</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Convulsions & seizures</topic><topic>Cortex</topic><topic>cortical visual impairment</topic><topic>Deficiency diseases</topic><topic>Developmental Disabilities - etiology</topic><topic>Developmental Disabilities - genetics</topic><topic>Encephalopathy</topic><topic>Epilepsy</topic><topic>Epilepsy - etiology</topic><topic>Epilepsy - genetics</topic><topic>Epileptic Syndromes - complications</topic><topic>Epileptic Syndromes - genetics</topic><topic>Female</topic><topic>Gender</topic><topic>Genetic Association Studies</topic><topic>Genotype & phenotype</topic><topic>Genotypes</topic><topic>Humans</topic><topic>hypermotor‐tonic‐spasms sequence</topic><topic>hypsarrhythmia</topic><topic>Male</topic><topic>Protein Serine-Threonine Kinases - genetics</topic><topic>Protein Serine-Threonine Kinases - physiology</topic><topic>Seizures</topic><topic>Sex Factors</topic><topic>spasms</topic><topic>Spasms, Infantile - complications</topic><topic>Spasms, Infantile - genetics</topic><topic>Vision Disorders - etiology</topic><topic>Vision Disorders - genetics</topic><topic>Visual impairment</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Demarest, Scott T.</creatorcontrib><creatorcontrib>Olson, Heather E.</creatorcontrib><creatorcontrib>Moss, Angela</creatorcontrib><creatorcontrib>Pestana‐Knight, Elia</creatorcontrib><creatorcontrib>Zhang, Xiaoming</creatorcontrib><creatorcontrib>Parikh, Sumit</creatorcontrib><creatorcontrib>Swanson, Lindsay C.</creatorcontrib><creatorcontrib>Riley, Katherine D.</creatorcontrib><creatorcontrib>Bazin, Grace A.</creatorcontrib><creatorcontrib>Angione, Katie</creatorcontrib><creatorcontrib>Niestroj, Lisa‐Marie</creatorcontrib><creatorcontrib>Lal, Dennis</creatorcontrib><creatorcontrib>Juarez‐Colunga, Elizabeth</creatorcontrib><creatorcontrib>Benke, Tim A.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Epilepsia (Copenhagen)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Demarest, Scott T.</au><au>Olson, Heather E.</au><au>Moss, Angela</au><au>Pestana‐Knight, Elia</au><au>Zhang, Xiaoming</au><au>Parikh, Sumit</au><au>Swanson, Lindsay C.</au><au>Riley, Katherine D.</au><au>Bazin, Grace A.</au><au>Angione, Katie</au><au>Niestroj, Lisa‐Marie</au><au>Lal, Dennis</au><au>Juarez‐Colunga, Elizabeth</au><au>Benke, Tim A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development</atitle><jtitle>Epilepsia (Copenhagen)</jtitle><addtitle>Epilepsia</addtitle><date>2019-08</date><risdate>2019</risdate><volume>60</volume><issue>8</issue><spage>1733</spage><epage>1742</epage><pages>1733-1742</pages><issn>0013-9580</issn><eissn>1528-1167</eissn><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.</abstract><cop>United States</cop><pub>Wiley Subscription Services, Inc</pub><pmid>31313283</pmid><doi>10.1111/epi.16285</doi><tpages>10</tpages><orcidid>https://orcid.org/0000-0002-4544-3724</orcidid><orcidid>https://orcid.org/0000-0002-6986-0549</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0013-9580 |
| ispartof | Epilepsia (Copenhagen), 2019-08, Vol.60 (8), p.1733-1742 |
| issn | 0013-9580 1528-1167 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7098045 |
| source | MEDLINE; Wiley Online Library Journals Frontfile Complete; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Wiley Free Content; Alma/SFX Local Collection |
| subjects | Age Age Factors CDKL5 deficiency disorder Child Child, Preschool Convulsions & seizures Cortex cortical visual impairment Deficiency diseases Developmental Disabilities - etiology Developmental Disabilities - genetics Encephalopathy Epilepsy Epilepsy - etiology Epilepsy - genetics Epileptic Syndromes - complications Epileptic Syndromes - genetics Female Gender Genetic Association Studies Genotype & phenotype Genotypes Humans hypermotor‐tonic‐spasms sequence hypsarrhythmia Male Protein Serine-Threonine Kinases - genetics Protein Serine-Threonine Kinases - physiology Seizures Sex Factors spasms Spasms, Infantile - complications Spasms, Infantile - genetics Vision Disorders - etiology Vision Disorders - genetics Visual impairment |
| title | CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-19T12%3A24%3A10IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=CDKL5%20deficiency%20disorder:%20Relationship%20between%20genotype,%20epilepsy,%20cortical%20visual%20impairment,%20and%20development&rft.jtitle=Epilepsia%20(Copenhagen)&rft.au=Demarest,%20Scott%20T.&rft.date=2019-08&rft.volume=60&rft.issue=8&rft.spage=1733&rft.epage=1742&rft.pages=1733-1742&rft.issn=0013-9580&rft.eissn=1528-1167&rft_id=info:doi/10.1111/epi.16285&rft_dat=%3Cproquest_pubme%3E2269069244%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2269069244&rft_id=info:pmid/31313283&rfr_iscdi=true |