Benign familial infantile epilepsy (BFIE) is an

epilepsy Epilepsy is a group of Non-communicable disease, non-communicable Neurological disorder, neurological disorders characterized by a tendency for recurrent, unprovoked Seizure, seizures. A seizure is a sudden burst of abnormal electrical activit ...

syndrome. Affected children, who have no other health or developmental problems, develop seizures during

infancy In common terminology, a baby is the very young offspring of adult human beings, while infant (from the Latin word ''infans'', meaning 'baby' or 'child') is a formal or specialised synonym. The terms may also be used to refer to juveniles of ...

. These seizures have

focal Focal or FOCAL may refer to: *Focal (lexicographical website), an Irish lexicographical website *FOCAL (programming language), a programming language for the PDP-8 and similar machines * Focal (HP-41), for programming HP calculators * FOCAL (space ...

origin within the brain but may then spread to become generalised seizures. The seizures may occur several times a day, often grouped in clusters over one to three days followed by a gap of one to three months. Treatment with

anticonvulsant Anticonvulsants (also known as antiepileptic drugs, antiseizure drugs, or anti-seizure medications (ASM)) are a diverse group of pharmacological agents used in the treatment of epileptic seizures. Anticonvulsants are also used in the treatme ...

drugs is not necessary but they are often prescribed and are effective at controlling the seizures. This form of epilepsy resolves after one or two years, and appears to be completely benign. The

EEG Electroencephalography (EEG) is a method to record an electrogram of the spontaneous electrical activity of the brain. The bio signals detected by EEG have been shown to represent the postsynaptic potentials of pyramidal neurons in the neoc ...

of these children, between seizures, is normal. The brain appears normal on

MRI Magnetic resonance imaging (MRI) is a medical imaging technique used in radiology to generate pictures of the anatomy and the physiological processes inside the body. MRI scanners use strong magnetic fields, magnetic field gradients, and rad ...

scan. A family history of epilepsy in infancy distinguishes this syndrome from the non-familial classification (see benign infantile epilepsy), though the latter may be simply sporadic cases of the same genetic mutations. The condition is inherited with an

autosomal dominant In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The firs ...

transmission. There are several genes responsible for this syndrome, on chromosomes 2, 16 and 19. It is generally described as idiopathic, meaning that no other neurological condition is associated with it or causes it. However, there are some forms that are linked to neurological conditions. One variant known as infantile convulsions and choreoathetosis (ICCA) forms an association between BFIE and

paroxysmal kinesigenic choreoathetosis Paroxysmal kinesigenic dyskinesia (PKD), also called paroxysmal kinesigenic choreoathetosis (PKC), is a rare hyperkinetic movement disorder of the paroxysmal dyskinesias characterized by attacks ( paroxysms) of involuntary movements, which are ...

and has been linked to the

PRRT2 Proline-rich transmembrane protein 2 is a protein that in humans is encoded by the ''PRRT2'' gene. Structure and tissue distribution This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in ...

gene on chromosome 16. An association with some forms of

familial hemiplegic migraine Familial hemiplegic migraine (FHM) is an autosomal dominant type of hemiplegic migraine that typically includes weakness of half the body which can last for hours, days, or weeks. It can be accompanied by other symptoms, such as ataxia, coma, an ...

(FHM) has also been found. Benign familial infantile epilepsy is not genetically related to

benign familial neonatal epilepsy Benign familial neonatal seizures (BFNS), also referred to as benign familial neonatal epilepsy (BFNE), is a rare autosomal dominant inherited form of seizures. This condition manifests in newborns as brief and frequent episodes of tonic-clonic se ...

(BFNE), which occurs in neonates. However, a variation with seizure onset between two days and seven months called ''benign familial neonatal–infantile seizures'' (BFNIS) has been described, which is due to a mutation in the SCN2A gene.

Treatment

Pharmacologic Treatments: There are several medications available for use and include levetiracetam, topiramate, lamotrigine, phenytoin, vigabatrin, rufinamide, and stiripentol. Dietary Treatments: Some studies suggest evidence supporting diet change such as a ketogenic diet or the Modified Atkins diet.

References

External links

{{Medical resources , DiseasesDB = , ICD10 = , ICD9 = , ICDO = , OMIM = , MedlinePlus = , eMedicineSubj = , eMedicineTopic = , MeshID = C535467 Epilepsy types