A novel mutation in KCNQ2 gene causes benign familial neonatal convulsions in a Chinese family

Tang, Beisha; Li, Haiyan; Xia, Kun; Jiang, Hong; Pan, Qian; Shen, Lu; Long, Zhigao; Zhao, Guohua; Cai, Fei

doi:10.1016/j.jns.2004.03.001

Cited by 23 publications

(9 citation statements)

References 19 publications

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“…In fact, the proband affected by the 2043⌬T mutation in Q2 developed a centrotemporal spike trait at the age of 3 years, well before the mean age of appearance of 7 years in families not affected by BFNC (26); in another recently described mutation in Q2 C terminus (1931⌬G), located close to the 2043⌬T mutation, the age of remission (12-18 months) was delayed when compared with most BFNC patients (3-6 months) (47). On the other hand, the more distal 2513⌬G mutation in Q2 produced less dramatic functional consequences, because patients affected by this mutation only showed classic BFNC, with no atypical clinico-electrophysiological features after the BFNC symptoms disappeared (19).…”

Section: Discussionmentioning

confidence: 99%

Decreased Subunit Stability as a Novel Mechanism for Potassium Current Impairment by a KCNQ2 C Terminus Mutation Causing Benign Familial Neonatal Convulsions

Soldovieri¹,

Castaldo

Iodice

et al. 2006

Journal of Biological Chemistry

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Section: Discussionmentioning

confidence: 99%

Decreased Subunit Stability as a Novel Mechanism for Potassium Current Impairment by a KCNQ2 C Terminus Mutation Causing Benign Familial Neonatal Convulsions

Soldovieri¹,

Castaldo

Iodice

et al. 2006

Journal of Biological Chemistry

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“…Mutations of KCNQ2 and KCNQ3 were first reported in BFNS families in 1998. [15][16][17] Since then, more than 50 mutations of KCNQ2 have been described in BFNS families [18][19][20][21][22][23][24][25][26][27][28][29][30] and de novo mutations have been reported in patients with benign idiopathic neonatal seizures. 21 These mutations are spread throughout the gene, and include missense, frameshift, truncation, and splice site mutations, as well as a deletion of multiple exons.…”

Section: Kcnq2 and Kcnq3mentioning

confidence: 99%

Channelopathies in Idiopathic Epilepsy

et al. 2007

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Approximately 70% of all patients with epilepsy lack an obvious extraneous cause and are presumed to have a predominantly genetic basis. Both familial and de novo mutations in neuronal voltage-gated and ligand-gated ion channel subunit genes have been identified in autosomal dominant epilepsies. However, patients with dominant familial mutations are rare and the majority of idiopathic epilepsy is likely to be the result of polygenic susceptibility alleles (complex epilepsy). Data on the identity of the genes involved in complex epilepsy is currently sparse but again points to neuronal ion channels. The number of genes and gene families associated with epilepsy is rapidly increasing and this increase is likely to escalate over the coming years with advances in mutation detection technologies. The genetic heterogeneity underlying idiopathic epilepsy presents challenges for the rational selection of therapies targeting particular ion channels. Too little is currently known about the genetic architecture of the epilepsies, and genetic testing for the known epilepsy genes remains costly. Pharmacogenetic studies have yet to explain why 30% of patients do not respond to the usual antiepileptic drugs. Despite this, the recognition that the idiopathic epilepsies are a group of channelopathies has, to a limited extent, explained the therapeutic action of the common antiepileptic drugs and has assisted clinical diagnosis of some epilepsy syndromes.

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“…Ictal studies show diffuse flattening evolving to focal or generalized spikes (7). Seizures typically remit by 4 months but may continue until 18 months (8). Later, febrile seizures occur in 5% of individuals and epilepsy in 11% of individuals (3).…”

Section: Autosomal‐dominant Seizure Syndromes Of Infancymentioning

confidence: 99%

“…Mutations in potassium channel subunits KCNQ2 and KCNQ3 were discovered in BFNS in 1998 (14–16). Most families with BFNS have mutations in KCNQ2 with only three mutations reported in KCNQ3 (5,8,10,17–20). The penetrance of BFNS mutations is about 85%.…”

Section: Autosomal‐dominant Seizure Syndromes Of Infancymentioning

confidence: 99%

Neonatal Epilepsy Syndromes and Generalized Epilepsy with Febrile Seizures Plus (GEFS+)

et al. 2005

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A novel mutation in KCNQ2 gene causes benign familial neonatal convulsions in a Chinese family

Cited by 23 publications

References 19 publications

Decreased Subunit Stability as a Novel Mechanism for Potassium Current Impairment by a KCNQ2 C Terminus Mutation Causing Benign Familial Neonatal Convulsions

Decreased Subunit Stability as a Novel Mechanism for Potassium Current Impairment by a KCNQ2 C Terminus Mutation Causing Benign Familial Neonatal Convulsions

Channelopathies in Idiopathic Epilepsy

Neonatal Epilepsy Syndromes and Generalized Epilepsy with Febrile Seizures Plus (GEFS+)

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