Benign familial infantile epilepsy

Lee, W.L.; Low, P. S.; Rajan, Uma

doi:10.1016/s0022-3476(05)80958-8

Cited by 47 publications

(24 citation statements)

References 4 publications

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“…In the European families reported to date, the seizures have been mostly of a partial type, with only some patients showing a secondary generalization [3,7,8]. However, the affected members of this Chinese family manifested generalized tonic-clonic seizures similar to those previously reported for other Chinese families [10,20]. The age of onset in this family was evidently earlier than most typical BFIS, the onset of which is generally around 6 months.…”

Section: Discussionsupporting

confidence: 66%

“…To date, BFIS has been mapped to at least three different chromosomal segments, 19q12-13.1, 2q24, and 16p12-q12, which strongly suggests that it is a genetically heterogeneous disorder [11]. However, linkage analysis performed in several Chinese families with BFIS were negative for these three loci for typical BFIS [10,18,20], indicating that the disease gene for Chinese BFIS patients may be in another chromosome region outside the accepted established critical regions.…”

Section: Introductionmentioning

confidence: 99%

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Infantile seizures and other epileptic phenotypes in a Chinese family with a missense mutation of KCNQ2

Zhou

Liu

et al. 2006

Eur J Pediatr

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Sequencing of the KCNQ2 gene revealed that all 17 affected family members carried a heterozygous Gly-to-Val (G271V) mutation in the conserved pore region that resulted from a guanine-to-thymine transition in exon 5 of KCNQ2. The same mutation with a comparable localization in the KCNQ3 (G310V) gene has been found in BFNS patients. The same conserved amino acid was also found to be mutated in the KCNQ1 gene in a family with Long QT Syndrome.

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Section: Discussionsupporting

confidence: 66%

Section: Introductionmentioning

confidence: 99%

Infantile seizures and other epileptic phenotypes in a Chinese family with a missense mutation of KCNQ2

Zhou

Liu

et al. 2006

Eur J Pediatr

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“…[1][2][3][4][5][6]8 Most authors described a unilateral onset of jerks, something that could not be confirmed in all of our families, probably because of the lack of detailed information. On the other hand, Echenne et al reported that seizures in their families were generalized instead of having a focal onset (based on two interictal EEG reports that were not reviewed by themselves).…”

Section: Discussionmentioning

confidence: 62%

“…17 The diagnosis BFIC was made if (1) focal afebrile seizures without known causative factors occurred that could become secondary generalized; (2) onset of seizures was between the age of 1 month and 1 year; (3) seizures remitted spontaneously at young age; (4) children were otherwise healthy; and (5) a family history of similar seizures existed. 2,3 This study has been approved by the medical ethical board of the Leiden University Medical Centre and the Erasmus Medical Centre Rotterdam.…”

Section: Patientsmentioning

confidence: 99%

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Benign familial infantile convulsions: a clinical study of seven Dutch families

Callenbach

Coo²,

Vein³

et al. 2002

European Journal of Paediatric Neurology

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Benign familial infantile convulsions (BFIC) is a recently identified partial epilepsy syndrome with onset between 3 and 12 months of age. We describe the clinical characteristics and outcome of 43 patients with BFIC from six Dutch families and one Dutch-Canadian family and the encountered difficulties in classifying the syndrome. Four families had a pure BFIC phenotype; in two families BFIC was accompanied by paroxysmal kinesigenic dyskinesias; in one family BFIC was associated with later onset focal epilepsy in older generations. Onset of seizures was between 6 weeks and 10 months, and seizures remitted before the age of 3 years in all patients with BFIC. In all, 29 (67%) of the 43 patients had been treated with anti-epileptic drugs for a certain period of time.BFIC is often not recognized as (hereditary) epilepsy by the treating physician. Seizures often remit shortly after the start of anti-epileptic drugs but, because of the benign course of the syndrome and the spontaneous remission of seizures, patients with low seizure frequency do not necessarily have to be treated. If prescribed, anti-epileptic drugs can probably be withdrawn after 1 or 2 years of seizure freedom.

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Co‐Occurrence of infantile epileptic seizures and childhood paroxysmal choreoathetosis in one family: Clinical, EEG, and SPECT characterization of episodic events

et al. 2002

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The co-occurrence of infantile convulsions and childhood paroxysmal choreoathetosis (ICCA syndrome) has recently been reported in several families. The pattern of familial clustering observed is consistent with a single locus mutation which has been mapped onto the pericentromeric region of chromosome 16. We studied the main clinical, electroencephalogram (EEG), and single photon emission computed tomography (SPECT) characteristics of episodic events in a new family presenting clinical features similar to that described in the ICCA syndrome. In the first year of life, a mother and her two daughters suffered from rare afebrile seizures lasting from 30 seconds to 15 minutes. Ictal EEG recording in one daughter at 7 months of age showed bilateral polyspikes with a posterior predominance. In the three patients, epileptic seizures regressed within a few weeks, and never reoccurred. At the age of 7 and 12 years, respectively, the two daughters presented daily brief (20 seconds to 1 minute) involuntary choreoathetotic episodes. In 10 of these attacks, EEG did not show any epileptiform abnormalities. In both sisters, an ictal SPECT was performed during a choreoathetotic episode. Subtracting the ictal SPECT from the interictal SPECT coregistered to magnetic resonance imaging (MRI) revealed significant modifications in the local cerebral perfusion in the sensorimotor cortex, the supplementary motor areas, and pallidum. Carbamazepine completely suppressed paroxysmal dyskinesias. These observations, together with literature data, suggest that in this syndrome, depending on brain maturation, the same genetic abnormality may result in different paroxysmal neurological symptoms.

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Benign familial infantile epilepsy

Cited by 47 publications

References 4 publications

Infantile seizures and other epileptic phenotypes in a Chinese family with a missense mutation of KCNQ2

Infantile seizures and other epileptic phenotypes in a Chinese family with a missense mutation of KCNQ2

Benign familial infantile convulsions: a clinical study of seven Dutch families

Co‐Occurrence of infantile epileptic seizures and childhood paroxysmal choreoathetosis in one family: Clinical, EEG, and SPECT characterization of episodic events

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