title: Are SCN1A gene mutations responsible for genetic susceptibility to subacute sclerosing panencephalitis?
abstract: Dravet syndrome, characterized predominantly by myoclonus, has a striking clinical resemblance to subacute sclerosing panencephalitis (SSPE). Patients with Dravet syndrome develop significant mental decline with advancing age of affected child like in SSPE. It is well established that SCN1A gene mutations are associated with Dravet syndrome. Even periodic EEG complexes have been described in Dravet syndrome. In addition to Dravet syndrome, several other types of acute and subacute encephalopathic syndromes having clinical and electroencephalographic resemblance to SSPE are associated with SCN1A gene mutations. SSPE is a devastating progressive inflammatory disorder of the central nervous system. It is caused by persistent infection of the brain by an aberrant measles virus. Only a few of a vast number of measles infected pediatric population develop SSPE. There are several reports describing presence of SSPE is close relatives and it has been described previously in sibling and twin pairs. A genetic susceptibility for development of SSPE is likely. In fact, a variety of genetic abnormalities have already been described in patients with SSPE. It can also be argued that because of striking clinical resemblance between Dravet and various epileptic and encephalopathic syndromes associated with SCN1A gene mutations and SSPE, SCN1A gene abnormalities may also be responsible for susceptibility to SSPE in measles infected children.
authors.affiliation: Department of Neurology, Chhatrapati Shahuji Maharaj Medical University, Uttar Pradesh, Lucknow, India. garg50@yahoo.com
authors.forename: Ravindra Kumar
authors.initials: RK
authors.lastname: Garg
mesh_terms: D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D007249:Inflammation; D008459:Measles virus / Q000472:pathogenicity; D009154:Mutation; D062550:NAV1.1 Voltage-Gated Sodium Channel / Q000235:genetics* / Q000502:physiology; D012307:Risk Factors; D013344:Subacute Sclerosing Panencephalitis / Q000209:etiology / Q000235:genetics* / Q000821:virology
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; C568242:SCN1A protein, human