A novel mutation of KCNQ3 (c.925T→C) in a Japanese family with benign familial neonatal convulsions

Hirose, Sachiko; Zenri, Fumiko; Akiyoshi, Hidetaka; Fukuma, Goryu; Iwata, Hiromi; Inoue, Takahito; Yonetani, Minako; Tsutsumi, Makoto; Muranaka, Hideki; Kurokawa, Toru; Hanai, Toshio; Wada, Kazumaru; Kaneko, Sunao; Mitsudome, Akihisa

doi:10.1002/1531-8249(200006)47:6<822::aid-ana19>3.3.co;2-o

Cited by 36 publications

(41 citation statements)

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“…Several families have been reported with seizures that resolve before the age of 6 years without CVI or ID. [57][58][59][60][61][62][63][64][65] However, recently two additional families with seizures and variants in KCNQ3 have been reported in which family members had various IQ levels from severe ID to normal. 66,67 Therefore, the phenotypic spectrum of KCNQ3 variants appeared to be broader than benign epilepsy only and might well include CVI.…”

Section: Resultsmentioning

confidence: 99%

Novel genetic causes for cerebral visual impairment

et al. 2015

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Section: Resultsmentioning

confidence: 99%

Novel genetic causes for cerebral visual impairment

et al. 2015

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“…The mutations of the nicotinic acetylcholine receptor in patients with ADNFLE are located in the pore region [25]. Mutations in potassium pore regions are associated with benign familial neonatal convulsions [26], and mutations in the pore region of SCN8A result in movement disorders in the mouse [27]. While most pore mutations result in reduced channel activity, at least one P-loop mutation and two S6 mutations have been reported to slow inactivation kinetics and promote late currents, similar to the results in our study [28][29][30].…”

Section: Discussionmentioning

confidence: 99%

Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy

Holland

Kearney²,

Glauser

et al. 2008

Neuroscience Letters

135

118

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Mutations in the sodium channel genes SCN1A and SCN2A have been identified in monogenic childhood epilepsies, but SCN3A has not previously been investigated as a candidate gene for epilepsy. We screened a consecutive cohort of 18 children with cryptogenic partial epilepsy that was classified as pharmacoresistant because of nonresponse to carbamazepine or oxcarbazepine, antiepileptic drugs that bind sodium channels. The novel coding variant SCN3A-K354Q was identified in one patient and was not present in 295 neurological normal controls. Twelve novel SNPs were also detected. K354Q alters an evolutionarily conserved amino acid in the pore domain of SCN3A. Functional analysis of this mutation in the backbone of the closely related gene SCN5A demonstrated an increase in persistent current that is similar in magnitude to epileptogenic mutations of SCN1A and SCN2A. This observation of a potentially pathogenic mutation of SCN3A (Nav1.3) indicates that this gene should be further evaluated for its contribution to childhood epilepsy.

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“…Additionally, several loci reported for other epilepsy phenotypes such as juvenile myoclonic epilepsy (JME), benign familial neonatal convulsions (BFNC) and autosomal dominant partial epilepsy with auditory features (ADPEAF) [23,[35][36][37][38] were also found to be significant. Figure 1 is the Venn diagram showing the number of loci associated with each phenotype.…”

Section: Microsatellite Markers With Significant Associationmentioning

confidence: 99%

Genome-wide identification of febrile seizure and related epilepsy phenotype loci

Yoshida

Miyashita

Kuwano

et al. 2008

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Study Group JapanFebrile seizure (FS), autosomal dominant epilepsy with FS plus (ADEFS+), and severe myoclonic epilepsy of infancy (SMEI) are all triggered by high fever at the onset of disorder, but are clinically distinct from each other. Although various identified gene mutations account for approximately 15% of families with ADEFS+ and 80% of patients with SMEI, the responsible gene for FS is essentially unknown. The present study was conducted to identify the loci associated with the risk of these 3 disorders. Among 154 patients (77 with SMEI, 34 with ADEFS+ and 43 with FS), we found 21, 24 and 27 novel susceptibility loci associated with the three diseases, respectively. This is the first phase of a two-part study on the genetic risk profile for feverrelated seizure disorders.

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A novel mutation of KCNQ3 (c.925T→C) in a Japanese family with benign familial neonatal convulsions

Cited by 36 publications

References 0 publications

Novel genetic causes for cerebral visual impairment

Novel genetic causes for cerebral visual impairment

Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy

Genome-wide identification of febrile seizure and related epilepsy phenotype loci

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