Familial cerebral small vessel disease
Gene: SCN1AComment when marking as ready: Subcortical white matter hyper-intensities not always associated with these phenotypesCreated: 4 Jul 2016, 2:36 p.m.
Comment on list classification: Tier 1 gene for Cerebral Small Vessel Disorders in BRIDGE StudyCreated: 4 Jul 2016, 2:30 p.m.
Subcortical white matter hyperintensities have been reported in one family with Familial Hemiplegic Migraine (FHM3). White matter hyperintensities have also been reported in patients with Dravet Syndrome (Severe myoclonic epilepsy of infancy) due to SCN1A mutations.Created: 23 Jun 2016, 4:05 p.m.
Phenotypes
Familial Hemiplegic Migraine; Migraine; Cerebral small vessel disease
Publications
Phenotypes for SCN1A were set to Cerebral small vessel disease; Dravet syndrome 607208; Epilepsy, generalized, with febrile seizures plus, type 2 604403; Febrile seizures, familial, 3A 604403; Migraine, familial hemiplegic, 3 609634
This gene has been classified as Red List (Low Evidence).
SCN1A was added to Familial cerebral small vessel diseasepanel. Sources: Expert list
Phenotypes for SCN1A were set to Cerebral small vessel disease; Dravet syndrome 607208; Epilepsy, generalized, with febrile seizures plus, type 2 604403; Febrile seizures, familial, 3A 604403; Migraine, familial hemiplegic, 3 609634
SCN1A was added to Familial cerebral small vessel diseasepanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
This gene has been classified as Red List (Low Evidence).
SCN1A was added to Familial cerebral small vessel diseasepanel. Sources: Literature
SCN1A was created by rheatan