Mutations in the Na+/Citrate Cotransporter NaCT (SLC13A5) in Pediatric Patients with Epilepsy and Developmental Dela
The mutational analysis of potassium (KCNQ2, KCNQ3), sodium (SCN1A, SCN2A), and chloride (CLCN2) ion...
SLC13A5 is a Na+-coupled transporter for citrate that is expressed in the plasma membrane of specifi...
Background: Mutations in SCN1A, the gene encoding the α1 subunit of the sodium channel, have been fo...
International audienceEpileptic encephalopathy (EE) refers to a clinically and genetically heterogen...
The human uptake transporter NaCT is important for human brain development, brain function and energ...
The human uptake transporter NaCT is important for human brain development, brain function and energ...
In addition to tissues such as liver, the plasma membrane sodium-dependent citrate transporter, NaCT...
Epileptic encephalopathy (EE) refers to a clinically and genetically heterogeneous group of severe d...
Epileptic encephalopathies may arise from single gene variants. In recent years, next-generation seq...
The KCNT1 gene encodes for subunits contributing to the Na+-activated K+ current (KNa), expressed in...
peer reviewedThe epileptic encephalopathies are a clinically and aetiologically heterogeneous subgro...
The mutational analysis of potassium (KCNQ2, KCNQ3), sodium (SCN1A, SCN2A), and chloride (CLCN2) ion...
SLC13A5 is a Na+-coupled transporter for citrate that is expressed in the plasma membrane of specifi...
Background: Mutations in SCN1A, the gene encoding the α1 subunit of the sodium channel, have been fo...
International audienceEpileptic encephalopathy (EE) refers to a clinically and genetically heterogen...
The human uptake transporter NaCT is important for human brain development, brain function and energ...
The human uptake transporter NaCT is important for human brain development, brain function and energ...
In addition to tissues such as liver, the plasma membrane sodium-dependent citrate transporter, NaCT...
Epileptic encephalopathy (EE) refers to a clinically and genetically heterogeneous group of severe d...
Epileptic encephalopathies may arise from single gene variants. In recent years, next-generation seq...
The KCNT1 gene encodes for subunits contributing to the Na+-activated K+ current (KNa), expressed in...
peer reviewedThe epileptic encephalopathies are a clinically and aetiologically heterogeneous subgro...
The mutational analysis of potassium (KCNQ2, KCNQ3), sodium (SCN1A, SCN2A), and chloride (CLCN2) ion...
SLC13A5 is a Na+-coupled transporter for citrate that is expressed in the plasma membrane of specifi...
Background: Mutations in SCN1A, the gene encoding the α1 subunit of the sodium channel, have been fo...
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