Generalized epilepsy with febrile convulsions plus

The Generalized epilepsy with febrile seizures plus also known as the coming from English abbreviation GEFS + is a syndrome autosomal dominant disorder in which affected individuals numerous Epilepsiephänotypen can show.

If toddlers have a mostly harmless febrile seizure with a probability of at least 5% for at least one attack, GEFS + can persist beyond early childhood, ie beyond the age of 6 to 7 years.

GEFS + is believed to include three other epilepsy diseases: severe childhood myoclonic epilepsy ( Dravet syndrome , also known by the abbreviation SMEI), borderline SMEI (also known by the abbreviation SMEB), which is closely related to Dravet syndrome, and the insoluble epilepsy in childhood (IEC).

There are six identified genetic chromosome segments for febrile seizures, which are numbered as FEB1 to FEB6 with their English abbreviations. For GEFS + there appears to be an equally high number of underlying genetic defects. In detail these are

the sodium channel pathways ,
the subunit SCN1A ,
an associated subunit SCN1B from the previous one,
a GABA receptor ,
the further subunit GABRG2 ,
and another gene related to the calcium channel , PCDH19 , also known as epilepsy female with intellectual disabilities . The penetrance for this disorder is estimated to be around 60%.

Signs and symptoms

People with GEFS + show a number of different types of seizures or epilepsy phenotypes. These include febrile seizures that end at the age of 6 or 7 and those that go beyond the age of 7 and may include febrile tonic-clonic seizures, myoclonic seizures, myoclonic seizures, etc., including absences , atonic seizures and myoclonic astatic epilepsy . Individuals may also present with SMEI characterized by general tonic-clonic seizures, impaired psychomotor development, myoclonic seizures, ataxia, and poor response to many anticonvulsants .

therapy

Long-term treatment is with antispasmodic drugs, mainly valproate , stiripentol , topiramate or clobazam . In certain cases, a ketogenic diet has also proven beneficial.

Breakthrough convulsions are treated with benzodiazepines such as midazolam.

Individual evidence

↑ ^a ^b I. Scheffer I, S. Berkovic: Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes . In: brain . tape 120 , no. 3 , 1997, p. 479-90 , doi : 10.1093 / brain / 120.3.479 , PMID 9126059 .
↑ Spampanato J, Escayg A, Meisler M, Goldin A: Generalized epilepsy with febrile seizures plus type 2 mutation W1204R changes the voltage-dependent permeability of Na (v) 1.1 sodium channels . In: Neuroscience . tape 116 , no. 1 , 2003, p. 37-48 , doi : 10.1016 / S0306-4522 (02) 00698-X , PMID 12535936 .
↑ Singh R., Andermann E., Whitehouse W., Harvey A., Keene D., Seni M, Crossland K., Andermann F., Berkovic S., Scheffer I .: Severe myoclonic epilepsy in infancy: expanded spectrum from GEFS +? tape 42 , no. 7 , 2001, p. 837-44 , doi : 10.1046 / j.1528-1157.2001.042007837.x , PMID 11488881 .
↑ Rhodes T, Vanoye C, Ohmori I, Ogiwara I, Yamakawa K, George A: Sodium channel disorder in difficult-to-treat epilepsy in childhood with generalized tonic-clonic seizures . In: J Physiol . tape 569 , no. 2 , 2005, p. 433-45 , doi : 10.1113 / jphysiol.2005.094326 , PMID 16210358 , PMC 1464244 (free full text).

[Scheffer_1997-1] I. Scheffer I, S. Berkovic: Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes . In: brain . tape 120 , no. 3 , 1997, p. 479-90 , doi : 10.1093 / brain / 120.3.479 , PMID 9126059 .

[Spampanato_2003-2] Spampanato J, Escayg A, Meisler M, Goldin A: Generalized epilepsy with febrile seizures plus type 2 mutation W1204R changes the voltage-dependent permeability of Na (v) 1.1 sodium channels . In: Neuroscience . tape 116 , no. 1 , 2003, p. 37-48 , doi : 10.1016 / S0306-4522 (02) 00698-X , PMID 12535936 .

[Singh_2001-3] Singh R., Andermann E., Whitehouse W., Harvey A., Keene D., Seni M, Crossland K., Andermann F., Berkovic S., Scheffer I .: Severe myoclonic epilepsy in infancy: expanded spectrum from GEFS +? tape 42 , no. 7 , 2001, p. 837-44 , doi : 10.1046 / j.1528-1157.2001.042007837.x , PMID 11488881 .

[Rhodes_2005-4] Rhodes T, Vanoye C, Ohmori I, Ogiwara I, Yamakawa K, George A: Sodium channel disorder in difficult-to-treat epilepsy in childhood with generalized tonic-clonic seizures . In: J Physiol . tape 569 , no. 2 , 2005, p. 433-45 , doi : 10.1113 / jphysiol.2005.094326 , PMID 16210358 , PMC 1464244 (free full text).