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. Genetic Heterogeneity of Benign Familial Infantile SeizuresThe BFIS1 locus has been mapped to chromosome 19q. BFIS2 (OMIM ) is caused by mutation in the PRRT2 gene on chromosome 16p11. BFIS3 (OMIM ), which is caused by the mutations in the SCN2A gene (OMIM ) on chromosome 2q24, has a slightly earlier age at onset and is sometimes termed benign familial 'neonatal-infantile' seizures. BFIS4 (OMIM ) has been mapped to chromosome 1p. BFIS5 (OMIM ) is caused by mutation in the SCN8A gene (OMIM ) on chromosome 12q13. BFIS6 (see {610353}) is caused by mutation in the CHRNA2 gene (OMIM ) on chromosome 8p21.

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.

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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

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Sources and references

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OMIM Genetic Syndrome Finder

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