SCN1A mutation database!

Mutation information:

Number	Exon/Intron	Nucleotide change	Protein change	Location	Mutation type	Consequences	Phenotype	Inheritance	Reference
1153	21	c.4219C>T	p.Arg1407X	DIIIS5-S6	Nonsense	Haploinsufficiency;LOF	SMEI	De novo	Sugawara T.2002
							SMEI	NA	Fukuma G.2004
							SMEI	De novo	Harkin LA.2007
							SMEI	NA	Wang JW.2012

Functional information:

Number	Nucleotide change	Protein change	Location	Phenotype	Functional defect type	Details of the major biophysical abnormalities.	Reference
32	c.4219C>T	p.Arg1407X (R1396X)	DIIIS5-S6	SMEI	LOF	Extremely small Na+ currents, generate non-functional channel.	Sugawara T.2003

[c.4219C>T] Clinical description
The first seizure of the male patient, three-years-old, was presented with hemiclonic seizures at the age of four months. Thereafter the patient occurred other seizures including absence seizures from eight months of age, myoclonia seizures with daily from 6months of age, GTCS with weekly from eight months of age, and complex partial seizures with monthly from one year of age. The patient had ataxia and 50 of developmental quotient. The patient's mother had febrile convulsion. The CT and MRI scan was normal, and the electroencephalogram analysis showed spike-wave complex, poly spike-wave complex, and photosensitivity(Sugawara T,et al. Neurology. 2002 Apr 9;58(7): 1122-4. [11940708]).

[c.4219C>T] Clinical description

The first seizure of the male patient, three-years-old, was presented with hemiclonic seizures at the age of four months. Thereafter the patient occurred other seizures including absence seizures from eight months of age, myoclonia seizures with daily from 6months of age, GTCS with weekly from eight months of age, and complex partial seizures with monthly from one year of age. The patient had ataxia and 50 of developmental quotient. The patient's mother had febrile convulsion. The CT and MRI scan was normal, and the electroencephalogram analysis showed spike-wave complex, poly spike-wave complex, and photosensitivity(Sugawara T,et al. Neurology. 2002 Apr 9;58(7): 1122-4. [11940708]).

Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China

Collaborative Innovation Center for Neurogenetics and Channelopathies, Guangzhou 510260, China.