SLC6A1 epileptic encephalopathy is a genetic disorder characterised by the loss-of-function of one copy of the human SLC6A1 gene. SLC6A1 epileptic encephalopathy...
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GABA transporter type 1 (redirect from SLC6A1)
pressure. SLC6A1 has been shown to interact with STX1A. Solute carrier family GABA transporter 2 GABA transporter 3 SLC6A1 epileptic encephalopathy GRCh38:...
19 KB (2,159 words) - 22:11, 3 March 2023
epilepsy by the International League Against Epilepsy (ILAE). SLC6A1 epileptic encephalopathy RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Myoclonic astatic...
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one calcium ion. Mutations in this gene cause early infantile epileptic encephalopathy 39 (EIEE39), symptomized by global hypomyelination of the central...
14 KB (1,679 words) - 16:26, 11 August 2024
transporter disorder. Mutations in SLC13A5 cause autosomal recessive epileptic encephalopathy with seizure onset in the first days of life. Those afflicted suffer...
5 KB (580 words) - 04:48, 22 February 2023
The most severe 'classic' phenotype comprises infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor...
22 KB (2,591 words) - 01:29, 18 January 2024