X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
clinical neurology (3) 3
epilepsy (3) 3
humans (3) 3
neurology (3) 3
epilepsy - genetics (2) 2
genetics (2) 2
index medicus (2) 2
medicine (2) 2
medicine & public health (2) 2
15q13.3 microdeletions (1) 1
16p13.11 predispose (1) 1
adult (1) 1
allelic association (1) 1
alternative exon (1) 1
alternative medicine (1) 1
analysis (1) 1
architecture (1) 1
aromatherapy - methods (1) 1
association analysis (1) 1
brain (1) 1
brd2 ring3 (1) 1
brief report (1) 1
care (1) 1
care and treatment (1) 1
case-control studies (1) 1
children (1) 1
chromosome mapping (1) 1
cohort studies (1) 1
complementary therapies - methods (1) 1
convulsiones (1) 1
convulsions (1) 1
convulsive disorders (1) 1
convulsive seizures (1) 1
copy number variants (1) 1
diagnosis (1) 1
disorders (1) 1
dna copy number variations - genetics (1) 1
epilepsy - diagnosis (1) 1
epilepsy - drug therapy (1) 1
epilepsy - therapy (1) 1
epileptic encephalopathies (1) 1
epileptic encephalopathy (1) 1
expression (1) 1
failure (1) 1
family quartet (1) 1
genes - genetics (1) 1
genetic association studies - methods (1) 1
genetic predisposition to disease (1) 1
genetic predisposition to disease - genetics (1) 1
genetic research (1) 1
genetic variation (1) 1
genetics & heredity (1) 1
genome, human - genetics (1) 1
genomes (1) 1
genomics (1) 1
genotype (1) 1
health aspects (1) 1
herbal medicine (1) 1
herbal medicine - methods (1) 1
homeopathic medicine (1) 1
homeopathy - methods (1) 1
idiopathic generalized epilepsy (1) 1
infantile spasms (1) 1
intractable epilepsy (1) 1
ketogenic diet (1) 1
kv1.3 potassium channel - genetics (1) 1
large-conductance calcium-activated potassium channel beta subunits - genetics (1) 1
medicine, ayurvedic (1) 1
medicine, chinese traditional - methods (1) 1
mutations (1) 1
national institute of neurological disorders and stroke (1) 1
nerve tissue proteins - genetics (1) 1
nervous system diseases (1) 1
neurosciences (1) 1
pattern (1) 1
phenotype (1) 1
phenotyping (1) 1
polymorphism (1) 1
polymorphism, single nucleotide (1) 1
prognosis (1) 1
protein (1) 1
receptor alpha-4 subunit (1) 1
receptors, gaba-a (1) 1
receptors, gaba-b - genetics (1) 1
replicate (1) 1
research (1) 1
risk-factor (1) 1
scn8a (1) 1
seizures (1) 1
seizures - genetics (1) 1
seizures, convulsive (1) 1
sequence (1) 1
sequencing (1) 1
special report (1) 1
spectrum (1) 1
splice variants (1) 1
succinate-semialdehyde dehydrogenase - genetics (1) 1
susceptibility loci (1) 1
synapsins - genetics (1) 1
syndrome (1) 1
more...
Library Location Library Location
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Lancet Neurology, The, ISSN 1474-4422, 2007, Volume 6, Issue 11, pp. 970 - 980
Journal Article
2002, ISBN 0896038270, xii, 368
Book
Current Neurology and Neuroscience Reports, ISSN 1528-4042, 7/2006, Volume 6, Issue 4, pp. 347 - 353
Journal Article
by Berkovic, Samuel F and Grinton, Bronwyn and Dixon-Salazar, Tracy and Laughlin, Brandon L and Lubbers, Laura and Milder, Julie and Goldstein, David B and Heinzen, Erin L and Bier, Louise and Ernst, Michelle E and Lippa, Natalie C and Mulhern, Maureen S and Afgani, Tahseen M and Aggarwal, Vimla and Stong, Nicholas and Lowenstein, Daniel H and Cornes, Susannah and Johnson, Kaleas and Stewart, Randall and Whittemore, Vicky and Angione, Kaitlin and Demarest, Scott and Gibbons, Melissa and Joshi, Charuta and Park, Kristen and Bazil, Carl W and Choi, Hyunmi and Bluvstein, Judith and Devinsky, Orrin and Dugan, Patricia and Tolete, Patricia and Brimble, Elise and Campbell, Colleen and Chambers, Chelsea and Goodkin, Howard and Jansen, Laura and Cilio, Maria Roberta and Numis, Adam and Singhal, Nilika and Sullivan, Joseph and Ciliberto, Michael and Delanty, Norman and Delanty, Norman and Dlugos, Dennis and Dubbs, Holly and Helbig, Ingo and Marsh, Eric and Martinez, Alejandro and Gallentine, William and Makati, Mohamad A and Marsh, Eric and Millichap, John and Moskovich, Yuliya and Millichap, John and Poduri, Annapurna and Sheidley, Beth and Smith, Lacey and Taylor, Alan and Porter, Brenda and Sands, Tristan T and Riviello, James J and Scheffer, Ingrid E and Scheffer, Ingrid E and Scheffer, Ingrid E and Aggarwal, Vimla and Allen, Andrew S and Hamid, Rizwan and Helbig, Katherine L and Tang, Sha and Meisler, Miriam H and Petrovski, Slave and Pfotenhauer, Jean and Epilepsy Genetics Initiative
Genetics in Medicine, ISSN 1098-3600, 02/2018, Volume 20, Issue 2, pp. 275 - 281
Purpose: As part of the Epilepsy Genetics Initiative, we re-evaluated clinically generated exome sequence data from 54 epilepsy patients and their unaffected... 
Epileptic encephalopathy | Alternative exon | Epilepsy | SCN8A | Whole-exome sequencing | epilepsy | alternative exon | PROTEIN | SPLICE VARIANTS | epileptic encephalopathy | SEQUENCE | GENETICS & HEREDITY | MUTATIONS | SPECTRUM | whole-exome sequencing | EXPRESSION | BRAIN | Genetics | Brief Report
Journal Article
No results were found for your search.

Cannot display more than 1000 results, please narrow the terms of your search.