MedGen

Generalized epilepsy with febrile seizures plus type 12 (GEFSP12) is characterized by variable types of seizures, most often febrile seizures, sometimes combined with additional nonfebrile seizures, including focal or generalized seizures. Some mutation carriers do not have febrile seizures, but demonstrate focal, generalized, rare myoclonic-atonic seizures, or nonspecific epilepsy consistent with idiopathic generalized epilepsy (EIG; see 600669). The transmission pattern of GEFSP12 is consistent with autosomal dominant inheritance with variable expressivity within families and incomplete penetrance (Heron et al., 2021). For a discussion of genetic heterogeneity of GEFS+, see 604233. [from OMIM]

Developmental and epileptic encephalopathy-114 (DEE114) is characterized by moderately to severely impaired intellectual development, onset of epilepsy within the first 18 months of life, and a choreiform, dystonic, or dyskinetic movement disorder (Platzer et al., 2022). For general phenotypic information and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]