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Clinical Cases and Reviews in Epilepsy

Epileptic phenotypes related to the UNC79-UNC80-NALCN protein complex

Brief report/Clinical case, 54 - 58
doi: 10.11138/ccre/2017.2.1.054
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Abstract
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The NALCN gene encodes a voltage-indipendent, non-selective, cation channel permeable to NA+, K+ and Ca2+ which forms a large channel complex with two other proteins, products of UNC80 and UNC79 genes.
The UNC80 gene is essential for the stability and function of the NALCN sodium leak channel and for bridging NALCN to UNC79 to form a functional complex.
This channel complex is mainly expressed in the central nervous system (CNS) and it plays a crucial role in regulating the resting membrane potentials and neuronal excitability.
Mutations in the NALCN gene have recently been linked to human diseases: two autosomal-recessive conditions (IHPRF1, Infantile hypotonia with psychomotor retardation and characteristic facies; INAD; Infantile neuroaxonal dystrophy with
facial dysmorphisms and skeletal anomalies) and one autosomal-dominant condition (CLIFHADD;
Congenital contractures of the limbs and face, hypotonia and developmental delay). Homozy - gous or compound heterozygous mutation in the UNC80 gene are associated to the IHPRF2 syndrome (Infantile hypotonia with psychomotor retardation and characteristic facies-2). In addition to facial dysmorphism and psychomotor retardation, epilepsy is often associated with IHPRF1 and IHPRF2 Syndrome but the epileptic phenotype has never been accurately described.
"Recently two novel mutations in NALCN gene have been observed in two Sardinian siblings with IHPRF1 Syndrome and epilepsy. Here we describe the epileptic phenotype of these two Sardinian siblings and compare their findings with those previously reported in
NALCN and UNC80 recessive mutated patients.

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  1. Epileptic phenotypes related to the UNC79-UNC80-NALCN protein complex
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