Variable epilepsy phenotypes associated with heterozygous mutation in the SCN9A gene: report of two cases
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DOI: 10.1007/s10072-018-3300-y
Abstract: Up to now, SCN9A mutations encoding Nav1.7 have been limited to inherited pain syndromes. A few of pathogenic SCN9A mutations with or without SCN1A mutations have been identified in epileptic patients. Here, we report two… read more here.
Keywords: variable epilepsy; scn9a mutations; epilepsy phenotypes; report two ... See more keywords
Structure-Function Studies of the Bacillus subtilis Ric Proteins Identify the Fe-S Cluster-Ligating Residues and Their Roles in Development and RNA Processing
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DOI: 10.1128/mbio.01841-19
Abstract: The RicA, RicF, and RicT proteins are widely conserved among the firmicute bacteria and play multiple roles in Bacillus subtilis. Among the phenotypes associated with the inactivation of these proteins are the inability to be… read more here.
Keywords: ric proteins; bacillus subtilis; phenotypes associated; ricf ... See more keywords
Neurologic phenotypes associated with COL4A1/2 mutations
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DOI: 10.1212/wnl.0000000000008787
Abstract: In the article “Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease” by Zagaglia et al.,1 the text for “3/M, 5 years” under the “Mutation Gene” column in supplementary table 3a should read… read more here.
Keywords: neurologic phenotypes; col4a1 mutations; phenotypes associated; associated col4a1 ... See more keywords
Phenotypes Associated With MEN1 Syndrome: A Focus on Genotype-Phenotype Correlations
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DOI: 10.3389/fendo.2020.591501
Abstract: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant inherited tumor syndrome, associated with parathyroid, pituitary, and gastro-entero-pancreatic (GEP) neuroendocrine tumors (NETs). MEN1 is usually consequent to different germline and somatic mutations of… read more here.
Keywords: associated men1; genotype phenotype; genotype; men1 syndrome ... See more keywords