Severe phenotypic spectrum of biallelic mutations in PRRT2 gene
暂无分享,去创建一个
B. Echenne | C. Korff | N. Leboucq | V. des Portes | M. Milh | E. Roze | J. Rochette | A. Roubertie | D. Doummar | P. Szepetowski | V. Humbertclaude | F. Riant | J. Mancini | V. Navarro | M. Delcourt | Samuel Quintin | Rabbind Singh Amrathlal
[1] J. Serratosa,et al. Atypical course in individuals from Spanish families with benign familial infantile seizures and mutations in the PRRT2 gene , 2014, Epilepsy Research.
[2] L. Lagae,et al. PRRT2 mutations: exploring the phenotypical boundaries , 2013, Journal of Neurology, Neurosurgery & Psychiatry.
[3] M. Vidailhet,et al. PRRT2 mutations and paroxysmal disorders , 2013, European journal of neurology.
[4] F. Zara,et al. Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences , 2012, Epilepsia.
[5] Ning Wang,et al. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia , 2011, Nature Genetics.
[6] Wei Chen,et al. Deep sequencing reveals 50 novel genes for recessive cognitive disorders , 2011, Nature.
[7] P. Stankiewicz,et al. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size , 2009, Journal of Medical Genetics.
[8] A. Monaco,et al. Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome. , 2001, American journal of human genetics.