Disease Information for Benign Infantile Seizures, familal [2q23-q24.3]

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Clinical Manifestations
Signs & Symptoms
Seizures
Seizures/Children/recurrent
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Sex & Age Groups
Population/Children/all
Population/Infant
Associated Diseases & Rule outs
Associated Disease & Complications
Seizure disorder (epilepsy)
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Gene locus 16p12-q12
Pathophysiology/Gene locus Chromosome 16
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Eponymic/Esoteric/Not yet integrated into database
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Vegetative-Autonomic/Endocrine (category)
Synonyms
Synonym
Benign Neonatal Convulsion, Benign Neonatal Convulsions, Benign neonatal convulsions (disorder), Benign Neonatal Epilepsies, Benign neonatal epilepsy, Benign neonatal seizures, Convulsion Benign Neonatal, Convulsions Benign Neonatal, Epilepsies Benign Neonatal, Epilepsy Benign Neonatal, Neonatal Convulsion Benign, Neonatal Convulsions Benign, Neonatal Epilepsies Benign, Neonatal Epilepsy Benign, Synonym/Benign convulsions familial infantile, Synonym/Familial Benign Neonatal Seizures
Definition

SEIZURES, BENIGN FAMILIAL NEONATAL-INFANTILE; Benign familial neonatal-infantile seizures is an autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae; It is distinguished from benign neonatal epilepsy and benign familial infantile convulsions by an intermediate age at onset. Onset at 5 days, the proband developed seizures consisting of eye-blinking and lip-smacking or rhythmic twitching of the left arm and leg with the head turned to the right; A few subsequent seizures occurred, but all ceased after 6 months of age; Age at onset in other affected family members ranged from 2 days to 3; 5 months, but ceased in all patients by age 7 months; Seizures occurred in clusters, usually 5 to 15, over a period of hours to a couple of days after onset ;None of the patients developed a subsequent seizure disorder, and all had normal intellectual and motor development;The authors suggested the term "benign familial neonatal-infantile seizures" to describe the disorder. This is an autosomal dominant inheritance of benign familial neonatal seizures; None of the patients had seizures after the first 10 months of life, with long-term follow-up ranging from 10 months to 56 years; Development was normal, and antiepileptic drug therapy did not appear to modify either seizure recurrence or long-term outcome; individuals had onset at 3 to 3, 5 months, later than that typical for BFNC, which has onset within the first week of life.

Noting that the age at onset in benign familial infantile convulsions (BFIC) is typically between 4 and 8 months, the authors concluded that the age at onset in this family was intermediate between that seen in BFNC and BFIC; termed BFNC and BFIC "benign familial convulsions of early life”; BFNC1 and BFNC2 chromosome 20 then 8;but 2q24 locus found; Clinical Synopsis: Seizures, partial, afebrile; Secondary generalization may occur; Seizures, generalized, afebrile; Seizures occur in clusters; Seizures often begin with head and eye deviation; Normal psychomotor development ; Normal interictal EEG; Onset ranges from 2 days to 7 months (most at 2-3 months); Seizures are easily controlled by medications; Spontaneous resolution by 12 months of age; (OMIM reference)

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External Links Related to Benign Infantile Seizures, familal [2q23-q24.3]
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