Seizures, Benign Familial Infantile, 1

Alternative Names

  • BFIS1
  • Convulsions, Benign Familial Infantile, 1
  • BFIC1
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WHO-ICD-10 version:2010

Diseases of the nervous system

Episodic and paroxysmal disorders

OMIM Number

601764

Mode of Inheritance

Autosomal dominant

Gene Map Locus

19q

Description

Benign familial infantile convulsions (BFIC), also known as benign familial infantile epilepsy, is a rare condition of autosomal dominantly inherited idiopathic epilepsy with onset at age three to 12 months. Episodes of multiple seizures tend to occur over a day or few days, and are characterized by psychomotor arrest, slow deviation of the head and eyes to one side, and asynchronous limb jerks.

The diagnosis is based on electroencephalogram (EEG) test that is used to measure the electrical activity of the brain. In some affected individuals, the EEG shows a specific abnormality called the theta pointu alternant pattern. However, patients with benign familial neonatal seizures (BFIC) usually have normal EEG readings. Anticonvulsant drugs are often prescribed, and are effective at controlling the seizures, but they are not necessary.

Molecular Genetics

Benign familial infantile convulsions (BFIC) was mapped on chromosome 19q, between markers D19S49 and D19S245. Infantile convulsions and choreoathetosis syndrome, in which benign familial infantile seizure is associated with paroxysmal choreoathetosis, has been linked to chromosome 16p12-q12. Mutations in the sodium-channel subunit gene SCN2A have also recently been associated with benign familial neonatal-infantile convulsions.

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Saadeldin et al. (2010) described 275 patients with epileptic seizures in Saudi Arabia over a period of three years and seven months. The patients were aged between two months to 13 years, and 116 patients were between two and 24 months. These patients presented with seizures between two and 24 months of age. They had normal psychomotor development during and after the onset of seizures, had normal interictal EEG, normal brain imagining and good response to treatment. Fourteen infants (12%) showed electroclinical features consistent with BIS. Eleven patients were diagnosed with benign non-familial infantile seizures (BNFIS), while three patients showed the possibility of having benign familial infantile seizures (BFIS) due to their family pedigrees. All of the patients were treated with anti-epileptic drugs, and 50% of them responded within three months.

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