What are the other Names for this Condition? (Also known as/Synonyms)

• Benign Familial Infantile Convulsions 1
• Benign Familial Infantile Convulsions Syndrome
• Benign Familial Infantile Seizure

What is Benign Familial Infantile Epilepsy 1? (Definition/Background Information)

• BenignFamilialInfantileEpilepsy(BFIE) 1 is a genetic epilepticsyndromecharacterized by the occurrence of afebrile repeatedseizuresin healthy infants, between the third and eighth month of life
• The exact prevalence of this disorder is not known. BenignFamilialInfantileEpilepsy, 1 is caused by mutation(s) in PRRT2, SCN2A, KCNQ2 and KCNQ3 genes. The disorder is inherited in an autosomal dominant manner, with incomplete penetrance
• Anti-epileptic medication is the standard treatment, and the prognosis is good

(Source: Convulsions, benign familial infantile, 1;Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Benign Familial Infantile Epilepsy 1? (Age and Sex Distribution)

• Although BenignFamilialInfantileEpilepsy, 1 cases have been reported worldwide, prevalence and incidence remain unknown 
• In an Argentinian case series, BFIE have been listed as the third most common type of epilepsy in the first two years of life

(Source: Convulsions, benign familial infantile, 1; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

What are the Risk Factors for Benign Familial Infantile Epilepsy 1? (Predisposing Factors)

• A positive family history may be an important risk factor, since BenignFamilialInfantileEpilepsy, 1 can be inherited
• Currently, no other risk factors have been clearly identified for BFIE

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Benign Familial Infantile Epilepsy 1? (Etiology)

BenignFamilialInfantileEpilepsy, 1 is a genetically heterogeneous disease.

• In the majority of cases, mutations in the proline-rich transmembrane protein 2 (PRRT2) gene located at 16p11.2 have been found. This gene encodes a membrane protein that interacts with the presynaptic protein SNAP-25
• Mutations have also been found in the SCN2Agene (2q24.3) encoding the brain sodium channel NaV1.2 and rarely in the KCNQ2 (20q13.33) and KCNQ3(8q24) genes both encoding potassium channels
• Additionally, three other chromosomal loci have been identified that are mapped to chromosome 19q, 16p and 1p
• BenignFamilialInfantileEpilepsy, 1 follows autosomal dominant inheritance with incomplete penetrance

(Source: Convulsions, benign familial infantile, 1; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

In autosomal dominant inheritance with incomplete penetrance, an individual may not develop symptoms even when he/she is carrying a defective gene copy in each cell of his/her body.

What are the Signs and Symptoms of Benign Familial Infantile Epilepsy 1?

The signs and symptoms of BenignFamilialInfantileEpilepsy, 1 may include:

• Seizures: Usually occur between 3 to 8 months of life, with clusters (8-10 a day) of repeated and brief episodes (2-5 minutes) over a few days. The seizures can be focal or generalized 
• Motor arrest 
• Unresponsiveness 
• Head and/or eye deviation to one side 
• Staring 
• Fluttering of eyelids 
• Grunting 
• Cyanosis 
• Diffuse hypertonia 
• Unilateral or bilateral clonic jerks of the limbs 

Based on the frequency of symptoms observed, the following information may be noted:

Very frequently present symptoms in 80-99% of the cases:

• Abnormality of vision
• Deeply set eye
• Myoclonus
• Reduced consciousness/confusion
• Seizures

Frequently present symptoms in 30-79% of the cases:

• Choreoathetosis
• Dysesthesia
• Dyskinesia
• Hypertonia
• Muscular hypotonia

Occasionally present symptoms in 5-29% of the cases:

• Dysphasia
• Fatigue
• Hallucinations
• Memory impairment
• Migraine
• Nausea and vomiting

(Source: Convulsions, benign familial infantile, 1; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

How is Benign Familial Infantile Epilepsy 1 Diagnosed?

• A diagnosis of BenignFamilialInfantileEpilepsy, 1, is typically made based on the presence of characteristic signs and symptoms
• Family history can orient the diagnosis, which is based on electroencephalography (EEG) and video recordings 
  • Interictal EEG shows that partial seizures originate from the parietal-occipital region and that the side of the hemisphere involved can vary between episodes. Seizures can sometimes spread and involve the entire brain
  • During a cluster of seizures, postictal EEG shows lateralized occipito-parietal delta waves and spikes. Outside the cluster, waking and sleeping interictal EEG is normal. Interictal neurological examination and brainimaging (brain CT and/orMRI) are normal
• Genetic testingconfirms the diagnosis

(Source: Convulsions, benign familial infantile, 1; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Benign Familial Infantile Epilepsy 1?

BenignFamilialInfantileEpilepsy, 1 can be treated effectively, and no complications have been reported

How is Benign Familial Infantile Epilepsy 1 Treated?

BenignFamilialInfantileEpilepsy, 1 is treated with:

• Anti-epileptic treatment (e.g. carbamazepine, valproate, phenobarbital)
• In patients with a clear familial history, the treatment can be interrupted within a few months

(Source: Convulsions, benign familial infantile, 1; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

How can Benign Familial Infantile Epilepsy 1 be Prevented?

BenignFamilialInfantileEpilepsy, 1 may not be preventable, since it is a genetic disorder

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Benign Familial Infantile Epilepsy 1? (Outcomes/Resolutions)

• The prognosis of BenignFamilialInfantileEpilepsy, 1 is good 
• Seizures normally disappear after the first year of life, and patients do not display any neurological sequelae

(Source: Convulsions, benign familial infantile, 1; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Additional and Relevant Useful Information for Benign Familial Infantile Epilepsy 1:

Convulsions, Benign Familial Infantile, 1 is also known by the following acronyms: 

• BFIC1 
• BFIC 
• BFIS1

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/