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KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features

3 May 2006

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PMID: 16670688
DOI: 10.1038/sj.ejhg.5201629

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KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological featuresPMID 16670688Read ↗

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[Neonatal diabetes mellitus caused by KCNJ11 mutation: a case report].Semantic proximity Read ↗

Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.Semantic proximity Read ↗

[From gene to disease; neonatal diabetes mellitus and the KCNJ11 gene].Semantic proximity Read ↗

Patients with <i><scp>KCNJ</scp>11</i>‐related diabetes frequently have neuropsychological impairments compared with sibling controlsSemantic proximity Read ↗

KCNJ10 mutations disrupt function in patients with EAST syndrome.Semantic proximity Read ↗

Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental DelaySemantic proximity Read ↗

Clinical and Molecular Characterization of Children with Neonatal Diabetes Mellitus at a Tertiary Care Center in Northern India.Semantic proximity Read ↗

Two novel CSNK2A1 variants associated with mild Okur-Chung neurodevelopmental syndrome phenotype.Semantic proximity Read ↗

Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.Semantic proximity Read ↗

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