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Seizures, benign familial neonatal, 1(BFNS1)

MedGen UID:
460425
Concept ID:
C3149074
Disease or Syndrome
Synonyms: Benign Neonatal Epilepsy 1; KCNQ2-Related Benign Familial Neonatal Epilepsy
 
Gene (location): KCNQ2 (20q13.33)
 
Monarch Initiative: MONDO:0007365
OMIM®: 121200

Disease characteristics

Excerpted from the GeneReview: KCNQ2-Related Disorders
KCNQ2-related disorders represent a continuum of overlapping neonatal epileptic phenotypes ranging from self-limited familial neonatal epilepsy (SLFNE) at the mild end to neonatal-onset developmental and epileptic encephalopathy (NEO-DEE) at the severe end. Additional, less common phenotypes consisting of neonatal encephalopathy with non-epileptic myoclonus, infantile or childhood-onset developmental and epileptic encephalopathy (DEE), and isolated intellectual disability (ID) without epilepsy have also been described. KCNQ2-SLFNE is characterized by seizures that start in otherwise healthy infants between two and eight days after term birth and spontaneously disappear between the first and the sixth to 12th month of life. There is always a seizure-free interval between birth and the onset of seizures. Seizures are characterized by sudden onset with prominent motor involvement, often accompanied by apnea and cyanosis; video EEG identifies seizures as focal onset with tonic stiffening of limb(s) and some migration during each seizure's evolution. About 30% of individuals with KCNQ2-SLFNE develop epileptic seizures later in life. KCNQ2-NEO-DEE is characterized by multiple daily seizures beginning in the first week of life that are mostly tonic, with associated focal motor and autonomic features. Seizures generally cease between ages nine months and four years. At onset, EEG shows a burst-suppression pattern or multifocal epileptiform activity; early brain MRI can show basal ganglia hyperdensities and later MRIs may show white matter or general volume loss. Moderate-to-profound developmental impairment is present. [from GeneReviews]
Authors:
Francesco Miceli  |  Maria Virginia Soldovieri  |  Sarah Weckhuysen, et. al.   view full author information

Additional descriptions

From OMIM
Benign familial neonatal seizures is an autosomal dominant disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age. The disorder is distinguished from benign familial infantile seizures (BFIS1; 601764) by an earlier age at onset. 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 Neonatal Seizures See also BFNS2 (121201), which is caused by mutation in the KCNQ3 gene (602232) on chromosome 8q24, and BFNS3 (608217), which has been associated with a pericentric inversion on chromosome 5. See 269720 for a possible autosomal recessive form.  http://www.omim.org/entry/121200
From MedlinePlus Genetics
Typically, seizures are the only symptom of BFNS, and most people with this condition develop normally. However, some affected individuals develop intellectual disability that becomes noticeable in early childhood. A small percentage of people with BFNS also have a condition called myokymia, which is an involuntary rippling movement of the muscles. In addition, in about 15 percent of people with BFNS, recurrent seizures (epilepsy) will come back later in life after the seizures associated with BFNS have gone away. The age that epilepsy begins is variable.

A test called an electroencephalogram (EEG) is used to measure the electrical activity of the brain. Abnormalities on an EEG test, measured during no seizure activity, can indicate a risk for seizures. However, infants with BFNS usually have normal EEG readings. In some affected individuals, the EEG shows a specific abnormality called the theta pointu alternant pattern. By age 2, most affected individuals who had EEG abnormalities have a normal EEG reading.

Benign familial neonatal seizures (BFNS) is a condition characterized by recurrent seizures in newborn babies. The seizures begin around day 3 of life and usually go away within 1 to 4 months. The seizures can involve only one side of the brain (focal seizures) or both sides (generalized seizures). This condition is often associated with generalized tonic-clonic seizures (also known as grand mal seizures). This type of seizure involves both sides of the brain and affects the entire body, causing a combination of seizure types: tonic seizures, which are characterized by uncontrolled muscle stiffness and rigidity, and clonic seizures, which are characterized by uncontrolled jerking of the muscles. Seizure episodes in infants with BFNS typically begin with tonic stiffness and pauses in breathing (apnea) followed by clonic jerking.   https://medlineplus.gov/genetics/condition/benign-familial-neonatal-seizures

Clinical features

From HPO
Febrile seizure (within the age range of 3 months to 6 years)
MedGen UID:
3232
Concept ID:
C0009952
Disease or Syndrome
A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.
Bilateral tonic-clonic seizure
MedGen UID:
141670
Concept ID:
C0494475
Sign or Symptom
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Myokymia
MedGen UID:
146882
Concept ID:
C0684219
Sign or Symptom
Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.
Focal clonic seizure
MedGen UID:
155749
Concept ID:
C0752323
Disease or Syndrome
A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Diagnosis

Lee IC, Yang JJ, Li SY
J Formos Med Assoc 2017 Sep;116(9):711-719. Epub 2016 Dec 27 doi: 10.1016/j.jfma.2016.11.009. PMID: 28038823

Prognosis

Lee IC, Yang JJ, Li SY
J Formos Med Assoc 2017 Sep;116(9):711-719. Epub 2016 Dec 27 doi: 10.1016/j.jfma.2016.11.009. PMID: 28038823

Clinical prediction guides

Lee IC, Yang JJ, Li SY
J Formos Med Assoc 2017 Sep;116(9):711-719. Epub 2016 Dec 27 doi: 10.1016/j.jfma.2016.11.009. PMID: 28038823

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