Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene

Neurogenetics

Volumn 16, Issue 1, 2015, Pages 23-26

  Sheffer, Ruth ^a   Bennett Back, Odeya ^a   Yaacov, Barak ^a   Edvardson, Simon ^a   Gomori, Moshe ^a   Werner, Marion ^a   Fahham, Duha ^a   Anteby, Irene ^a   Frumkin, Ayala ^a   Meiner, Vardiella ^a   Elpeleg, Orly ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

Hindbrain; INPP4A; Microcephaly; Myoclonic epilepsy

Indexed keywords

COMPLEMENTARY DNA; GLUTAMIC ACID; INPP4A PROTEIN; PHOSPHATASE; PHOSPHATIDYLINOSITOL 3,4 BISPHOSPHATE; UNCLASSIFIED DRUG; PHOSPHATIDYLINOSITOL-3,4-BISPHOSPHATE 4-PHOSPHATASE; PHOSPHORIC MONOESTER HYDROLASES;

AGAR GEL ELECTROPHORESIS; ARTICLE; AUTOPSY; BIRTH WEIGHT; BOY; BRAIN FOURTH VENTRICLE; BRAIN MALFORMATION; CASE REPORT; CEREBELLUM ATROPHY; CEREBELLUM HYPOPLASIA; CEREBELLUM VERMIS; CHILD; DNA PROBE; ELECTROENCEPHALOGRAM; EXCITOTOXICITY; EXON; FOLLOW UP; FOOD REGURGITATION; GENE DELETION; GENETIC ASSOCIATION; GLUTAMATERGIC SYNAPSE; HEAD CIRCUMFERENCE; HIGH ARCHED PALATE; HINDBRAIN MALFORMATION; HUMAN; INPP4A GENE; LIPID DEGRADATION; MALE; MICROCEPHALY; MICROGNATHIA; MOLECULAR PATHOLOGY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATOR GENE; MYOCLONUS EPILEPSY; MYOCLONUS SEIZURE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PRESCHOOL CHILD; PRIORITY JOURNAL; RESTLESSNESS; RHOMBENCEPHALON; SEGREGATION ANALYSIS; SIGNAL TRANSDUCTION; ABNORMALITIES; COMPLICATION; CONSANGUINITY; EPILEPSIES, MYOCLONIC; GENETICS; HUMANS; NERVOUS SYSTEM MALFORMATIONS; PHYSIOPATHOLOGY; SEQUENCE DELETION;

CONSANGUINITY; EPILEPSIES, MYOCLONIC; HUMANS; MALE; NERVOUS SYSTEM MALFORMATIONS; PHOSPHORIC MONOESTER HYDROLASES; RHOMBENCEPHALON; SEQUENCE DELETION;

EID: 84922100973     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-014-0428-7     Document Type: Article

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