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...

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Veröffentlicht in:	Epileptic disorders 2016-06, Vol.18 (2), p.123-136
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	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
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