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Quoted phrase not found in phrase index: "Generalized epilepsy with febrile seizures plus, type 7"
Page 1
Phenotypic and Genotypic Spectrum of Early-Onset Developmental and Epileptic Encephalopathies-Data from a Romanian Cohort.
Riza AL, Streață I, Roza E, Budișteanu M, Iliescu C, Burloiu C, Dobrescu MA, Dorobanțu S, Dragoș A, Grigorescu A, Tătaru T, Ioana M, Teleanu R. Riza AL, et al. Genes (Basel). 2022 Jul 15;13(7):1253. doi: 10.3390/genes13071253. Genes (Basel). 2022. PMID: 35886038 Free PMC article.
For the diagnosed patients, seizure onset was <1 year, and the seizure type was generalized tonic-clonic. Four additional plausible variants of unknown significance in SCN2A, SCN9A, and SLC2A1 correlated with the reported phenotype. ...
For the diagnosed patients, seizure onset was <1 year, and the seizure type was generalized tonic-clonic. Four additional plausibl …
A human mutation in Gabrg2 associated with generalized epilepsy alters the membrane dynamics of GABAA receptors.
Bouthour W, Leroy F, Emmanuelli C, Carnaud M, Dahan M, Poncer JC, Lévi S. Bouthour W, et al. Cereb Cortex. 2012 Jul;22(7):1542-53. doi: 10.1093/cercor/bhr225. Epub 2011 Sep 9. Cereb Cortex. 2012. PMID: 21908847
The K289M mutation in GABA(A)Rs subunit gamma2 has been associated with the generalized epilepsy with febrile seizures plus (GEFS+) syndrome. This mutation accelerates receptor deactivation and therefore reduces inhibitory synaptic transm …
The K289M mutation in GABA(A)Rs subunit gamma2 has been associated with the generalized epilepsy with febrile …
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.
Escayg A, Heils A, MacDonald BT, Haug K, Sander T, Meisler MH. Escayg A, et al. Am J Hum Genet. 2001 Apr;68(4):866-73. doi: 10.1086/319524. Epub 2001 Mar 14. Am J Hum Genet. 2001. PMID: 11254445 Free PMC article.
We recently described mutations of the neuronal sodium-channel alpha-subunit gene, SCN1A, on chromosome 2q24 in two families with generalized epilepsy with febrile seizures plus (GEFS+) type 2. To assess the contribution that SCN1A …
We recently described mutations of the neuronal sodium-channel alpha-subunit gene, SCN1A, on chromosome 2q24 in two families with general …
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.
Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, McMahon JM, Iona X, Carpintero RS, Elia M, Cilio MR, Specchio N, Giordano L, Striano P, Gennaro E, Cross JH, Kivity S, Neufeld MY, Afawi Z, Andermann E, Keene D, Dulac O, Zara F, Berkovic SF, Guerrini R, Mulley JC. Marini C, et al. Epilepsia. 2009 Jul;50(7):1670-8. doi: 10.1111/j.1528-1167.2009.02013.x. Epub 2009 Mar 12. Epilepsia. 2009. PMID: 19400878 Free article.
OBJECTIVE: We aimed to determine the type, frequency, and size of microchromosomal copy number variations (CNVs) affecting the neuronal sodium channel alpha 1 subunit gene (SCN1A) in Dravet syndrome (DS), other epileptic encephalopathies, and generalized epilepsy …
OBJECTIVE: We aimed to determine the type, frequency, and size of microchromosomal copy number variations (CNVs) affecting the neuron …
Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.
Ceulemans BP, Claes LR, Lagae LG. Ceulemans BP, et al. Pediatr Neurol. 2004 Apr;30(4):236-43. doi: 10.1016/j.pediatrneurol.2003.10.012. Pediatr Neurol. 2004. PMID: 15087100
Mutations in the alpha-subunit of the first neuronal sodium channel gene SCN1A have been described in isolated patients with severe myoclonic epilepsy in infancy or Dravet syndrome and in families with generalized epilepsy with febrile seizures …
Mutations in the alpha-subunit of the first neuronal sodium channel gene SCN1A have been described in isolated patients with severe myocloni …
Milder phenotype with SCN1A truncation mutation other than SMEI.
Yu MJ, Shi YW, Gao MM, Deng WY, Liu XR, Chen L, Long YS, Yi YH, Liao WP. Yu MJ, et al. Seizure. 2010 Sep;19(7):443-5. doi: 10.1016/j.seizure.2010.06.010. Epub 2010 Jul 14. Seizure. 2010. PMID: 20630778 Free article.
Till now truncation mutations of voltage-gated sodium channel alpha subunit type I (SCN1A) gene were mostly found in severe myoclonic epilepsy of infancy (SMEI) patients. In this research we first identified two novel de novo truncation mutations (S662X and M145fx148) in t …
Till now truncation mutations of voltage-gated sodium channel alpha subunit type I (SCN1A) gene were mostly found in severe myoclonic …
A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline.
Kamiya K, Kaneda M, Sugawara T, Mazaki E, Okamura N, Montal M, Makita N, Tanaka M, Fukushima K, Fujiwara T, Inoue Y, Yamakawa K. Kamiya K, et al. J Neurosci. 2004 Mar 17;24(11):2690-8. doi: 10.1523/JNEUROSCI.3089-03.2004. J Neurosci. 2004. PMID: 15028761 Free PMC article.
Mutations, exclusively missense, of voltage-gated sodium channel alpha subunit type 1 (SCN1A) and type 2 (SCN2A) genes were reported in patients with idiopathic epilepsy: generalized epilepsy with febrile seizures plus. ...P …
Mutations, exclusively missense, of voltage-gated sodium channel alpha subunit type 1 (SCN1A) and type 2 (SCN2A) genes were re …