Lv1
84 积分 2023-03-02 加入
Episodic ataxia type 2: unusual aspects in clinical and genetic presentation. Special emphasis in childhood
22小时前
待确认
GABRG2 Mutations Associated with a spectrum of epilepsy syndromes from Generalized Absence Epilepsy to Dravet syndrome
23小时前
已完结
Genetic epilepsy with febrile seizures plus: Refining the spectrum
13天前
已完结
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies
14天前
已完结
De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome
17天前
已完结
ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions
17天前
已完结
Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations
1个月前
已完结
Germline RTEL1 Variants in Telomere Biology Disorders
1个月前
已完结
Genomics of Complex Neurodevelopmental Disorders with Variable Epilepsy Phenotypes: A Clinical Review of Dup15q Syndrome
1个月前
已完结
HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome
1个月前
已完结
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