about
Loss of synaptic Zn2+ transporter function increases risk of febrile seizuresGenome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology.Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritanceCopy number variants are frequent in genetic generalized epilepsy with intellectual disabilityGenetic epilepsy with febrile seizures plus: Refining the spectrum.Evaluation of GLUT1 variation in non-acquired focal epilepsy.Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy.Familial adult myoclonic epilepsy: recognition of mild phenotypes and refinement of the 2q locus.Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.Familial mesial temporal lobe epilepsy and the borderland of déjà vu.Evaluation of non-coding variation in GLUT1 deficiency.Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline.Seizure semiology in autosomal dominant epilepsy with auditory features, due to novel LGI1 mutations.Does variation in NIPA2 contribute to genetic generalized epilepsy?Glucose metabolism transporters and epilepsy: Only GLUT1 has an established roleNo evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsyEpilepsy in families: Age at onset is a familial trait, independent of syndrome
P50
Q28115474-A240DBE7-231E-4135-BE3B-3180030E6AFCQ29417109-911D61E5-EC9C-496D-9AD7-DB1BFDFF62BAQ35275382-87432386-5960-4359-997A-CDE0ECABFB81Q36301683-AF83D4BF-78A4-4434-8B8D-F9764368BE50Q37463466-2EECEC30-1F15-4F51-A104-09FBE6ABAD8BQ38607703-63F75C97-ADCC-43F8-9F04-20A196296033Q38728742-B8059F62-9E77-47FD-AE03-A0D5A5D1137CQ40483745-3FA24298-8F29-4D6A-9288-CDA114356CA0Q43604570-F9FA8300-829D-4E34-9D55-B9EBB791A082Q47099633-79FCFAC2-3E9F-408F-BABA-DCEADC62B7EEQ47675901-BBD17702-BC43-437E-A3D0-3DF412E7A550Q47870181-1A47873D-C5A7-4BCB-AE8E-BFADB7616101Q47910558-84BD880D-C9DF-466F-ABE8-06FC034390CFQ48033009-0F3850F2-7A81-4BA7-8325-B51B7C5A5ED5Q54634890-BEFF43D4-5228-4B57-BF77-BE1B64B520A4Q57905455-EB71C64B-4223-461A-A2A6-23EAA7F7E64FQ57905470-905E51C0-F3FD-4B78-9954-75AE8FB7CF3BQ91344330-7E49A2D2-C024-4CB6-A856-7FA95F75CA11Q91723100-1B4D345E-B2E2-4B66-A520-DB3AAF963364
P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Susannah T Bellows
@ast
Susannah T Bellows
@en
Susannah T Bellows
@es
Susannah T Bellows
@nl
type
label
Susannah T Bellows
@ast
Susannah T Bellows
@en
Susannah T Bellows
@es
Susannah T Bellows
@nl
prefLabel
Susannah T Bellows
@ast
Susannah T Bellows
@en
Susannah T Bellows
@es
Susannah T Bellows
@nl
P108
P106
P1153
35182419600
P31
P496
0000-0003-1949-8489