Generalized epilepsy with febrile seizures plus information
"GEFS" redirects here. For the online flight simulator, see GEFS-Online.
"SMEB" redirects here. For the League of Legends player, see Smeb.
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Medical condition
GEFS+
Specialty
Neurology
Generalized epilepsy with febrile seizures plus (GEFS+) is a syndromic autosomal dominant disorder where affected individuals can exhibit numerous epilepsy phenotypes.[1] GEFS+ can persist beyond early childhood (i.e., 6 years of age). GEFS+ is also now believed to encompass three other epilepsy disorders: severe myoclonic epilepsy of infancy (SMEI), which is also known as Dravet's syndrome, borderline SMEI (SMEB), and intractable epilepsy of childhood (IEC).[2][3] There are at least six types of GEFS+, delineated by their causative gene. Known causative gene mutations are in the sodium channel α subunit genes SCN1A, an associated β subunit SCN1B, and in a GABAA receptor γ subunit gene, in GABRG2 and there is another gene related with calcium channel the PCDH19 which is also known as Epilepsy Female with Mental Retardation.[4] Penetrance for this disorder is estimated at 60%.[5]
^Scheffer I, Berkovic S (1997). "Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes". Brain. 120 (3): 479–90. doi:10.1093/brain/120.3.479. PMID 9126059.
^Spampanato J, Escayg A, Meisler M, Goldin A (2003). "Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels". Neuroscience. 116 (1): 37–48. doi:10.1016/S0306-4522(02)00698-X. PMID 12535936. S2CID 28204501.
^Singh R, Andermann E, Whitehouse W, Harvey A, Keene D, Seni M, Crossland K, Andermann F, Berkovic S, Scheffer I (2001). "Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?". Epilepsia. 42 (7): 837–44. doi:10.1046/j.1528-1157.2001.042007837.x. PMID 11488881. S2CID 7256994.
^Scheffer, Ingrid; et al. (2007). "Epilepsy and mental retardation limited to females: an under-recognized disorder". Brain. 131 (4): 918–927. doi:10.1093/brain/awm338. PMID 18234694.
^Wallace R, Wang D, Singh R, Scheffer I, George A, Phillips H, Saar K, Reis A, Johnson E, Sutherland G, Berkovic S, Mulley J (1998). "Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B". Nat Genet. 19 (4): 366–70. doi:10.1038/1252. PMID 9697698. S2CID 20962841.
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