JOURNAL ARTICLE
REVIEW

Benign familial infantile seizures

Federico Vigevano
Brain & Development 2005, 27 (3): 172-7
15737697
In recent years, numerous publications have reported localization-related epilepsy with onset during early infancy, idiopathic etiology and favourable outcome. In 1963, Fukuyama reported cases occurring in the first 2 years of life characterized by partial seizures, absence of etiologic factors and benign outcome. Watanabe studied the localization and semiology of seizures. Later Vigevano and coworkers directed attention to the presence of cases with a family history of convulsions with benign outcome during infancy, with autosomal dominant inheritance, suggesting the term 'benign infantile familial convulsions' (BIFC). Similar cases have been described by several authors confirming that this is a new syndrome. In the last ILAE proposal of Classification of Epilepsy Syndromes this entity is called benign familial infantile seizures. Benign infantile seizures are divided now into familial and non-familial forms, although the two forms can overlap. Genetic studies led to the identification of a marker on chromosome 19. This was not confirmed by later studies, and genetic heterogeneity was hypothesized. Recently Malacarne studying eight Italian families with BIFC mapped a novel locus on chromosome 2. In 1997, Szepetowski described the association between BIFC and a later occurrence of paroxysmal choreoathetosis. Following the identification of a specific marker on chromosome 16, this entity constitutes a variant of the familial forms, called infantile convulsions and choreoathetosis. The age at onset, the semeiology of the seizures and the genetic data distinguish the benign familial infantile seizures from the benign familial neonatal seizures. Recent data suggested that this type of epilepsy would be due to a channellopathy.

Full Text Links

Find Full Text Links for this Article

Discussion

You are not logged in. Sign Up or Log In to join the discussion.

Trending Papers

Remove bar
Read by QxMD icon Read
15737697
×

Save your favorite articles in one place with a free QxMD account.

×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"

We want to hear from doctors like you!

Take a second to answer a survey question.