Epilepsy in KCNH1‐related syndromes
Aim. KCNH1 mutations have been identified in patients with Zimmermann‐Laband syndrome and Temple‐Baraitser syndrome, as well as patients with uncharacterized syndromes with intellectual disability and overlapping features. These syndromes include dysmorphic facial features, nail hypo/aplasia, thumb...
Gespeichert in:
| Veröffentlicht in: | Epileptic disorders 2016-06, Vol.18 (2), p.123-136 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 136 |
|---|---|
| container_issue | 2 |
| container_start_page | 123 |
| container_title | Epileptic disorders |
| container_volume | 18 |
| creator | Mastrangelo, Mario Scheffer, Ingrid E. Bramswig, Nuria C. Nair, Lal. D.V. Myers, Candace T. Dentici, Maria Lisa Korenke, Georg C. Schoch, Kelly Campeau, Philippe M. White, Susan M. Shashi, Vandana Kansagra, Sujay Van Essen, Anthonie J. Leuzzi, Vincenzo |
| description | Aim. KCNH1 mutations have been identified in patients with Zimmermann‐Laband syndrome and Temple‐Baraitser syndrome, as well as patients with uncharacterized syndromes with intellectual disability and overlapping features. These syndromes include dysmorphic facial features, nail hypo/aplasia, thumb and skeletal anomalies, intellectual disability, and seizures. We report the epilepsy phenotype in patients with KCNH1 mutations.
Methods. Demographic data, electroclinical features, response to antiepileptic drugs, and results of significant diagnostic investigations of nine patients carrying mutations in KCNH1 were obtained from referring centres.
Results. Epilepsy was present in 7/9 patients. Both generalized and focal tonic‐clonic seizures were observed. Complete seizure control was achieved with pharmacological treatment in 2/7 patients; polytherapy was required in 4/7 patients. Status epilepticus occurred in 4/7 patients. EEG showed a diffusely slow background in 7/7 patients with epilepsy, with variable epileptiform abnormalities. Cerebral folate deficiency and an increase in urinary hypoxanthine and uridine were observed in one patient.
Conclusions. Epilepsy is a key phenotypic feature in most individuals with KCNH1‐related syndromes, suggesting a direct role of KCNH1 in epileptogenesis, although the underlying mechanism is not understood. |
| doi_str_mv | 10.1684/epd.2016.0830 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1797876000</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1797876000</sourcerecordid><originalsourceid>FETCH-LOGICAL-c3640-2d3bb8cf43027b0d7b3d538eb3186a58dbf786f06927cb91b06678ca824a48a3</originalsourceid><addsrcrecordid>eNp9kMtKAzEUQIMotlaXbqUggpupN49JMkup1YpFXXQfkpkMTJmXSQeZnZ_gN_olZmh14cJVLuRwuPcgdI5hhrlkN7bNZgQwn4GkcIDGOIkh4gmLD8NMEhYllOMROvF-A0DCJz5GIyIIFxTjMbpatEVpW99Pi3r6NH9e4q-PT2dLvbXZ1Pd15prK-lN0lOvS27P9O0Hr-8V6voxWLw-P89tVlFLOICIZNUamOaNAhIFMGJrFVFpDseQ6lpnJheQ58ISI1CTYAOdCploSppnUdIKud9rWNW-d9VtVFT61Zalr23ReYZEIKTgABPTyD7ppOleH5RSW4VBGCbBARTsqdY33zuaqdUWlXa8wqCGfCvnUkE8N-QJ_sbd2prLZL_3TKwBkB7yHav3_NrV4vSOD9RutDngO</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1800243204</pqid></control><display><type>article</type><title>Epilepsy in KCNH1‐related syndromes</title><source>MEDLINE</source><source>Wiley Online Library Journals Frontfile Complete</source><source>John Libbey Eurotext Journals</source><source>EZB-FREE-00999 freely available EZB journals</source><creator>Mastrangelo, Mario ; Scheffer, Ingrid E. ; Bramswig, Nuria C. ; Nair, Lal. D.V. ; Myers, Candace T. ; Dentici, Maria Lisa ; Korenke, Georg C. ; Schoch, Kelly ; Campeau, Philippe M. ; White, Susan M. ; Shashi, Vandana ; Kansagra, Sujay ; Van Essen, Anthonie J. ; Leuzzi, Vincenzo</creator><creatorcontrib>Mastrangelo, Mario ; Scheffer, Ingrid E. ; Bramswig, Nuria C. ; Nair, Lal. D.V. ; Myers, Candace T. ; Dentici, Maria Lisa ; Korenke, Georg C. ; Schoch, Kelly ; Campeau, Philippe M. ; White, Susan M. ; Shashi, Vandana ; Kansagra, Sujay ; Van Essen, Anthonie J. ; Leuzzi, Vincenzo</creatorcontrib><description>Aim. KCNH1 mutations have been identified in patients with Zimmermann‐Laband syndrome and Temple‐Baraitser syndrome, as well as patients with uncharacterized syndromes with intellectual disability and overlapping features. These syndromes include dysmorphic facial features, nail hypo/aplasia, thumb and skeletal anomalies, intellectual disability, and seizures. We report the epilepsy phenotype in patients with KCNH1 mutations.
Methods. Demographic data, electroclinical features, response to antiepileptic drugs, and results of significant diagnostic investigations of nine patients carrying mutations in KCNH1 were obtained from referring centres.
Results. Epilepsy was present in 7/9 patients. Both generalized and focal tonic‐clonic seizures were observed. Complete seizure control was achieved with pharmacological treatment in 2/7 patients; polytherapy was required in 4/7 patients. Status epilepticus occurred in 4/7 patients. EEG showed a diffusely slow background in 7/7 patients with epilepsy, with variable epileptiform abnormalities. Cerebral folate deficiency and an increase in urinary hypoxanthine and uridine were observed in one patient.
Conclusions. Epilepsy is a key phenotypic feature in most individuals with KCNH1‐related syndromes, suggesting a direct role of KCNH1 in epileptogenesis, although the underlying mechanism is not understood.</description><identifier>ISSN: 1294-9361</identifier><identifier>EISSN: 1950-6945</identifier><identifier>DOI: 10.1684/epd.2016.0830</identifier><identifier>PMID: 27267311</identifier><language>eng</language><publisher>France: Wiley Subscription Services, Inc</publisher><subject>Abnormalities, Multiple - drug therapy ; Abnormalities, Multiple - genetics ; Abnormalities, Multiple - physiopathology ; Adolescent ; Adult ; Anticonvulsants - therapeutic use ; Brain - physiopathology ; Child ; Child, Preschool ; Convulsions & seizures ; Craniofacial Abnormalities - drug therapy ; Craniofacial Abnormalities - genetics ; Craniofacial Abnormalities - physiopathology ; Electroencephalography ; Epilepsy ; Epilepsy - drug therapy ; Epilepsy - genetics ; Epilepsy - physiopathology ; Ether-A-Go-Go Potassium Channels - genetics ; Female ; Fibromatosis, Gingival - drug therapy ; Fibromatosis, Gingival - genetics ; Fibromatosis, Gingival - physiopathology ; genetic epilepsy ; Hallux - abnormalities ; Hallux - physiopathology ; Hand Deformities, Congenital - drug therapy ; Hand Deformities, Congenital - genetics ; Hand Deformities, Congenital - physiopathology ; Humans ; Infant ; Intellectual disabilities ; Intellectual Disability - drug therapy ; Intellectual Disability - genetics ; Intellectual Disability - physiopathology ; KCNH1‐related encephalopathy ; Male ; Mutation ; Nails, Malformed - drug therapy ; Nails, Malformed - genetics ; Nails, Malformed - physiopathology ; Syndrome ; Temple‐Baraitser syndrome ; Thumb - abnormalities ; Thumb - physiopathology ; undefined intellectual disability ; Young Adult ; Zimmermann‐Laband syndrome</subject><ispartof>Epileptic disorders, 2016-06, Vol.18 (2), p.123-136</ispartof><rights>2016 Epileptic Disorders</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3640-2d3bb8cf43027b0d7b3d538eb3186a58dbf786f06927cb91b06678ca824a48a3</citedby><cites>FETCH-LOGICAL-c3640-2d3bb8cf43027b0d7b3d538eb3186a58dbf786f06927cb91b06678ca824a48a3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1684%2Fepd.2016.0830$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1684%2Fepd.2016.0830$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27267311$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Mastrangelo, Mario</creatorcontrib><creatorcontrib>Scheffer, Ingrid E.</creatorcontrib><creatorcontrib>Bramswig, Nuria C.</creatorcontrib><creatorcontrib>Nair, Lal. D.V.</creatorcontrib><creatorcontrib>Myers, Candace T.</creatorcontrib><creatorcontrib>Dentici, Maria Lisa</creatorcontrib><creatorcontrib>Korenke, Georg C.</creatorcontrib><creatorcontrib>Schoch, Kelly</creatorcontrib><creatorcontrib>Campeau, Philippe M.</creatorcontrib><creatorcontrib>White, Susan M.</creatorcontrib><creatorcontrib>Shashi, Vandana</creatorcontrib><creatorcontrib>Kansagra, Sujay</creatorcontrib><creatorcontrib>Van Essen, Anthonie J.</creatorcontrib><creatorcontrib>Leuzzi, Vincenzo</creatorcontrib><title>Epilepsy in KCNH1‐related syndromes</title><title>Epileptic disorders</title><addtitle>Epileptic Disord</addtitle><description>Aim. KCNH1 mutations have been identified in patients with Zimmermann‐Laband syndrome and Temple‐Baraitser syndrome, as well as patients with uncharacterized syndromes with intellectual disability and overlapping features. These syndromes include dysmorphic facial features, nail hypo/aplasia, thumb and skeletal anomalies, intellectual disability, and seizures. We report the epilepsy phenotype in patients with KCNH1 mutations.
Methods. Demographic data, electroclinical features, response to antiepileptic drugs, and results of significant diagnostic investigations of nine patients carrying mutations in KCNH1 were obtained from referring centres.
Results. Epilepsy was present in 7/9 patients. Both generalized and focal tonic‐clonic seizures were observed. Complete seizure control was achieved with pharmacological treatment in 2/7 patients; polytherapy was required in 4/7 patients. Status epilepticus occurred in 4/7 patients. EEG showed a diffusely slow background in 7/7 patients with epilepsy, with variable epileptiform abnormalities. Cerebral folate deficiency and an increase in urinary hypoxanthine and uridine were observed in one patient.
Conclusions. Epilepsy is a key phenotypic feature in most individuals with KCNH1‐related syndromes, suggesting a direct role of KCNH1 in epileptogenesis, although the underlying mechanism is not understood.</description><subject>Abnormalities, Multiple - drug therapy</subject><subject>Abnormalities, Multiple - genetics</subject><subject>Abnormalities, Multiple - physiopathology</subject><subject>Adolescent</subject><subject>Adult</subject><subject>Anticonvulsants - therapeutic use</subject><subject>Brain - physiopathology</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Convulsions & seizures</subject><subject>Craniofacial Abnormalities - drug therapy</subject><subject>Craniofacial Abnormalities - genetics</subject><subject>Craniofacial Abnormalities - physiopathology</subject><subject>Electroencephalography</subject><subject>Epilepsy</subject><subject>Epilepsy - drug therapy</subject><subject>Epilepsy - genetics</subject><subject>Epilepsy - physiopathology</subject><subject>Ether-A-Go-Go Potassium Channels - genetics</subject><subject>Female</subject><subject>Fibromatosis, Gingival - drug therapy</subject><subject>Fibromatosis, Gingival - genetics</subject><subject>Fibromatosis, Gingival - physiopathology</subject><subject>genetic epilepsy</subject><subject>Hallux - abnormalities</subject><subject>Hallux - physiopathology</subject><subject>Hand Deformities, Congenital - drug therapy</subject><subject>Hand Deformities, Congenital - genetics</subject><subject>Hand Deformities, Congenital - physiopathology</subject><subject>Humans</subject><subject>Infant</subject><subject>Intellectual disabilities</subject><subject>Intellectual Disability - drug therapy</subject><subject>Intellectual Disability - genetics</subject><subject>Intellectual Disability - physiopathology</subject><subject>KCNH1‐related encephalopathy</subject><subject>Male</subject><subject>Mutation</subject><subject>Nails, Malformed - drug therapy</subject><subject>Nails, Malformed - genetics</subject><subject>Nails, Malformed - physiopathology</subject><subject>Syndrome</subject><subject>Temple‐Baraitser syndrome</subject><subject>Thumb - abnormalities</subject><subject>Thumb - physiopathology</subject><subject>undefined intellectual disability</subject><subject>Young Adult</subject><subject>Zimmermann‐Laband syndrome</subject><issn>1294-9361</issn><issn>1950-6945</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kMtKAzEUQIMotlaXbqUggpupN49JMkup1YpFXXQfkpkMTJmXSQeZnZ_gN_olZmh14cJVLuRwuPcgdI5hhrlkN7bNZgQwn4GkcIDGOIkh4gmLD8NMEhYllOMROvF-A0DCJz5GIyIIFxTjMbpatEVpW99Pi3r6NH9e4q-PT2dLvbXZ1Pd15prK-lN0lOvS27P9O0Hr-8V6voxWLw-P89tVlFLOICIZNUamOaNAhIFMGJrFVFpDseQ6lpnJheQ58ISI1CTYAOdCploSppnUdIKud9rWNW-d9VtVFT61Zalr23ReYZEIKTgABPTyD7ppOleH5RSW4VBGCbBARTsqdY33zuaqdUWlXa8wqCGfCvnUkE8N-QJ_sbd2prLZL_3TKwBkB7yHav3_NrV4vSOD9RutDngO</recordid><startdate>201606</startdate><enddate>201606</enddate><creator>Mastrangelo, Mario</creator><creator>Scheffer, Ingrid E.</creator><creator>Bramswig, Nuria C.</creator><creator>Nair, Lal. D.V.</creator><creator>Myers, Candace T.</creator><creator>Dentici, Maria Lisa</creator><creator>Korenke, Georg C.</creator><creator>Schoch, Kelly</creator><creator>Campeau, Philippe M.</creator><creator>White, Susan M.</creator><creator>Shashi, Vandana</creator><creator>Kansagra, Sujay</creator><creator>Van Essen, Anthonie J.</creator><creator>Leuzzi, Vincenzo</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>K9.</scope><scope>NAPCQ</scope><scope>7X8</scope></search><sort><creationdate>201606</creationdate><title>Epilepsy in KCNH1‐related syndromes</title><author>Mastrangelo, Mario ; Scheffer, Ingrid E. ; Bramswig, Nuria C. ; Nair, Lal. D.V. ; Myers, Candace T. ; Dentici, Maria Lisa ; Korenke, Georg C. ; Schoch, Kelly ; Campeau, Philippe M. ; White, Susan M. ; Shashi, Vandana ; Kansagra, Sujay ; Van Essen, Anthonie J. ; Leuzzi, Vincenzo</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3640-2d3bb8cf43027b0d7b3d538eb3186a58dbf786f06927cb91b06678ca824a48a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Abnormalities, Multiple - drug therapy</topic><topic>Abnormalities, Multiple - genetics</topic><topic>Abnormalities, Multiple - physiopathology</topic><topic>Adolescent</topic><topic>Adult</topic><topic>Anticonvulsants - therapeutic use</topic><topic>Brain - physiopathology</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Convulsions & seizures</topic><topic>Craniofacial Abnormalities - drug therapy</topic><topic>Craniofacial Abnormalities - genetics</topic><topic>Craniofacial Abnormalities - physiopathology</topic><topic>Electroencephalography</topic><topic>Epilepsy</topic><topic>Epilepsy - drug therapy</topic><topic>Epilepsy - genetics</topic><topic>Epilepsy - physiopathology</topic><topic>Ether-A-Go-Go Potassium Channels - genetics</topic><topic>Female</topic><topic>Fibromatosis, Gingival - drug therapy</topic><topic>Fibromatosis, Gingival - genetics</topic><topic>Fibromatosis, Gingival - physiopathology</topic><topic>genetic epilepsy</topic><topic>Hallux - abnormalities</topic><topic>Hallux - physiopathology</topic><topic>Hand Deformities, Congenital - drug therapy</topic><topic>Hand Deformities, Congenital - genetics</topic><topic>Hand Deformities, Congenital - physiopathology</topic><topic>Humans</topic><topic>Infant</topic><topic>Intellectual disabilities</topic><topic>Intellectual Disability - drug therapy</topic><topic>Intellectual Disability - genetics</topic><topic>Intellectual Disability - physiopathology</topic><topic>KCNH1‐related encephalopathy</topic><topic>Male</topic><topic>Mutation</topic><topic>Nails, Malformed - drug therapy</topic><topic>Nails, Malformed - genetics</topic><topic>Nails, Malformed - physiopathology</topic><topic>Syndrome</topic><topic>Temple‐Baraitser syndrome</topic><topic>Thumb - abnormalities</topic><topic>Thumb - physiopathology</topic><topic>undefined intellectual disability</topic><topic>Young Adult</topic><topic>Zimmermann‐Laband syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Mastrangelo, Mario</creatorcontrib><creatorcontrib>Scheffer, Ingrid E.</creatorcontrib><creatorcontrib>Bramswig, Nuria C.</creatorcontrib><creatorcontrib>Nair, Lal. D.V.</creatorcontrib><creatorcontrib>Myers, Candace T.</creatorcontrib><creatorcontrib>Dentici, Maria Lisa</creatorcontrib><creatorcontrib>Korenke, Georg C.</creatorcontrib><creatorcontrib>Schoch, Kelly</creatorcontrib><creatorcontrib>Campeau, Philippe M.</creatorcontrib><creatorcontrib>White, Susan M.</creatorcontrib><creatorcontrib>Shashi, Vandana</creatorcontrib><creatorcontrib>Kansagra, Sujay</creatorcontrib><creatorcontrib>Van Essen, Anthonie J.</creatorcontrib><creatorcontrib>Leuzzi, Vincenzo</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>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>MEDLINE - Academic</collection><jtitle>Epileptic disorders</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Mastrangelo, Mario</au><au>Scheffer, Ingrid E.</au><au>Bramswig, Nuria C.</au><au>Nair, Lal. D.V.</au><au>Myers, Candace T.</au><au>Dentici, Maria Lisa</au><au>Korenke, Georg C.</au><au>Schoch, Kelly</au><au>Campeau, Philippe M.</au><au>White, Susan M.</au><au>Shashi, Vandana</au><au>Kansagra, Sujay</au><au>Van Essen, Anthonie J.</au><au>Leuzzi, Vincenzo</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Epilepsy in KCNH1‐related syndromes</atitle><jtitle>Epileptic disorders</jtitle><addtitle>Epileptic Disord</addtitle><date>2016-06</date><risdate>2016</risdate><volume>18</volume><issue>2</issue><spage>123</spage><epage>136</epage><pages>123-136</pages><issn>1294-9361</issn><eissn>1950-6945</eissn><abstract>Aim. KCNH1 mutations have been identified in patients with Zimmermann‐Laband syndrome and Temple‐Baraitser syndrome, as well as patients with uncharacterized syndromes with intellectual disability and overlapping features. These syndromes include dysmorphic facial features, nail hypo/aplasia, thumb and skeletal anomalies, intellectual disability, and seizures. We report the epilepsy phenotype in patients with KCNH1 mutations.
Methods. Demographic data, electroclinical features, response to antiepileptic drugs, and results of significant diagnostic investigations of nine patients carrying mutations in KCNH1 were obtained from referring centres.
Results. Epilepsy was present in 7/9 patients. Both generalized and focal tonic‐clonic seizures were observed. Complete seizure control was achieved with pharmacological treatment in 2/7 patients; polytherapy was required in 4/7 patients. Status epilepticus occurred in 4/7 patients. EEG showed a diffusely slow background in 7/7 patients with epilepsy, with variable epileptiform abnormalities. Cerebral folate deficiency and an increase in urinary hypoxanthine and uridine were observed in one patient.
Conclusions. Epilepsy is a key phenotypic feature in most individuals with KCNH1‐related syndromes, suggesting a direct role of KCNH1 in epileptogenesis, although the underlying mechanism is not understood.</abstract><cop>France</cop><pub>Wiley Subscription Services, Inc</pub><pmid>27267311</pmid><doi>10.1684/epd.2016.0830</doi><tpages>14</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1294-9361 |
| ispartof | Epileptic disorders, 2016-06, Vol.18 (2), p.123-136 |
| issn | 1294-9361 1950-6945 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_1797876000 |
| source | MEDLINE; Wiley Online Library Journals Frontfile Complete; John Libbey Eurotext Journals; EZB-FREE-00999 freely available EZB journals |
| subjects | Abnormalities, Multiple - drug therapy Abnormalities, Multiple - genetics Abnormalities, Multiple - physiopathology Adolescent Adult Anticonvulsants - therapeutic use Brain - physiopathology Child Child, Preschool Convulsions & seizures Craniofacial Abnormalities - drug therapy Craniofacial Abnormalities - genetics Craniofacial Abnormalities - physiopathology Electroencephalography Epilepsy Epilepsy - drug therapy Epilepsy - genetics Epilepsy - physiopathology Ether-A-Go-Go Potassium Channels - genetics Female Fibromatosis, Gingival - drug therapy Fibromatosis, Gingival - genetics Fibromatosis, Gingival - physiopathology genetic epilepsy Hallux - abnormalities Hallux - physiopathology Hand Deformities, Congenital - drug therapy Hand Deformities, Congenital - genetics Hand Deformities, Congenital - physiopathology Humans Infant Intellectual disabilities Intellectual Disability - drug therapy Intellectual Disability - genetics Intellectual Disability - physiopathology KCNH1‐related encephalopathy Male Mutation Nails, Malformed - drug therapy Nails, Malformed - genetics Nails, Malformed - physiopathology Syndrome Temple‐Baraitser syndrome Thumb - abnormalities Thumb - physiopathology undefined intellectual disability Young Adult Zimmermann‐Laband syndrome |
| title | Epilepsy in KCNH1‐related syndromes |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-10T03%3A50%3A08IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Epilepsy%20in%20KCNH1%E2%80%90related%20syndromes&rft.jtitle=Epileptic%20disorders&rft.au=Mastrangelo,%20Mario&rft.date=2016-06&rft.volume=18&rft.issue=2&rft.spage=123&rft.epage=136&rft.pages=123-136&rft.issn=1294-9361&rft.eissn=1950-6945&rft_id=info:doi/10.1684/epd.2016.0830&rft_dat=%3Cproquest_cross%3E1797876000%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1800243204&rft_id=info:pmid/27267311&rfr_iscdi=true |