Seizures, Benign Familial Infantile, 1; Bfis1
Description
Benign familial infantile seizures (BFIS) is a seizure disorder of early childhood with age at onset from 3 months up to 24 months. It is characterized by brief seizures beginning with slow deviation of the head and eyes to 1 side and progressing to generalized motor arrest and hypotonia, apnea and cyanosis, and limb jerks. Seizures usually occur in clusters over a day or several days. The ictal EEG shows focal parietal-temporal activity, whereas the interictal EEG is normal. Concurrent and subsequent psychomotor and neurologic development are normal (Franzoni et al., 2005).See also benign familial neonatal seizures (BFNS1 ).Deprez et al. (2009) provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm.
Clinical Features
Top most frequent phenotypes and symptoms related to Seizures, Benign Familial Infantile, 1; Bfis1
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hypertonia
- Abnormality of the nervous system
- Apnea
- Focal-onset seizure
- Febrile seizures
- Cyanosis
- Generalized-onset seizure
And another 4 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Seizures, Benign Familial Infantile, 1; Bfis1 Is also known as bfic1, convulsions, benign familial infantile, 1.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Sources and references
You can check the following sources for additional information.
OMIM Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like POLYCYSTIC KIDNEY DISEASE 1; PKD1 PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE; PLSDT HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1 SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AUTOSOMAL DOMINANT; SMALED2 FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2; FTDALS2 SPLIT-HAND/FOOT MALFORMATION 6; SHFM6 MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB