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Items: 4

1.

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11, MILD

MedGen UID:
864815
Concept ID:
C4016378
Finding
2.

Early infantile epileptic encephalopathy 11

EIEE11 is an autosomal dominant seizure disorder characterized by infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities (Ogiwara et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). [from GTR]

MedGen UID:
462337
Concept ID:
C3150987
Disease or Syndrome
3.

Benign familial neonatal-infantile seizures

Benign familial neonatal-infantile seizures is an autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae (Shevell et al., 1986). See also benign familial infantile seizures (BFIS1; 601764), which has a slightly later onset, and benign neonatal seizures (see BFNS1; 121200), which has a slightly earlier onset. See also early infantile epileptic encephalopathy-11 (613721), a more severe disorder that also results from mutations in the SCN2A gene. [from GTR]

MedGen UID:
375105
Concept ID:
C1843140
Disease or Syndrome
4.

Generalized epilepsy with febrile seizures plus, type 1

SCN1A-related seizure disorders encompass a spectrum that ranges from simple febrile seizures (FS) and generalized epilepsy with febrile seizures plus (GEFS+) at the mild end to Dravet syndrome and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC) at the severe end. Phenotypes with intractable seizures including Dravet syndrome (also known as severe myoclonic epilepsy in infancy [SMEI] or polymorphic myoclonic epilepsy in infancy [PMEI]) are usually associated with progressive dementia. Less commonly observed phenotypes include myoclonic-astatic epilepsy (MAE or Doose syndrome), Lennox-Gastaut syndrome (LGS), infantile spasms, and vaccine-related encephalopathy and seizures. The phenotype of SCN1A-related seizure disorders can vary even within the same family. [from GTR]

MedGen UID:
348994
Concept ID:
C1858672
Disease or Syndrome
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