Novel genes of early-onset epileptic encephalopathies: From genotype to phenotypes

Pediatric Neurology

Volumn 53, Issue 2, 2015, Pages 119-129

  Mastrangelo, Mario ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

children; early onset epileptic encephalopathies; epilepsy; next generation sequencing

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR ALPHA1; DYNAMIN I; GUANINE NUCLEOTIDE BINDING PROTEIN; GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA ACTIVATING ACTIVITY POLYPEPTIDE O NUMBER 1; HYPERPOLARIZATION ACTIVATED CYCLIC NUCLEOTIDE GATED CHANNEL; HYPERPOLARIZATION ACTIVATED CYCLIC NUCLEOTIDE GATED CHANNEL 1; MEMBRANE PROTEIN; N METHYL DEXTRO ASPARTIC ACID RECEPTOR 2A; N METHYL DEXTRO ASPARTIC ACID RECEPTOR 2B; NECAP ENDOCYTOSIS ASSOCIATED PROTEIN 1; OXIDOREDUCTASE; POTASSIUM CHANNEL KCNB1; POTASSIUM CHANNEL KCNQ2; POTASSIUM CHANNEL KCNT1; RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR; RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 9; SEIZURE THRESHOLD 2 PROTEIN; SIALYLTRANSFERASE; SODIUM CHANNEL NAV1.2; SODIUM CHANNEL NAV1.6; SOLUTE CARRIER FAMILY 13 MEMBER 5; ST3 BETA GALACTOSIDE ALPHA 2,3 SIALYLTRANSFERASE 3; SUPEROXIDE DISMUTASE; TBC1 DOMAIN FAMILY MEMBER 24; UNCLASSIFIED DRUG; VOLTAGE GATED CALCIUM CHANNEL; VOLTAGE GATED CALCIUM CHANNEL ALPHA 2 DELTA SUBUNIT 2; VOLTAGE GATED POTASSIUM CHANNEL; WW DOMAIN CONTAINING OXIDOREDUCTASE;

CALCIUM CURRENT; GENE FUNCTION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANTILE SPASM; LENNOX GASTAUT SYNDROME; MISSENSE MUTATION; NERVE CELL NETWORK; NEUROIMAGING; NEXT GENERATION SEQUENCING; PATHOGENESIS; POINT MUTATION; PRIORITY JOURNAL; PROTEIN FUNCTION; PYRAMIDAL NERVE CELL; REVIEW; SYNAPSE VESICLE; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; INFANT; MEDLINE; MUTATION; PATHOPHYSIOLOGY; PHENOTYPE; STATISTICS AND NUMERICAL DATA;

GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INFANT; MUTATION; PHENOTYPE; PUBMED; SPASMS, INFANTILE;

EID: 84938285841     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2015.04.001     Document Type: Review

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