SPTAN1 encephalopathy: Distinct phenotypes and genotypes

Journal of Human Genetics

Volumn 60, Issue 4, 2015, Pages 167-173

  Tohyama, Jun ^a,b   Nakashima, Mitsuko ^c   Nabatame, Shin ^d   Gaik Siew, Ch'Ng ^e   Miyata, Rie ^f   Rener Primec, Zvonka ^g   Kato, Mitsuhiro ^h   Matsumoto, Naomichi ^c   Saitsu, Hirotomo ^c  

^a NISHI NIIGATA CHUO NATIONAL HOSPITAL   (Japan)

^b NIIGATA UNIVERSITY   (Japan)

^c YOKOHAMA CITY UNIVERSITY   (Japan)

^d OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^e HOSPITAL KUALA LUMPUR   (Malaysia)

^f Tokyo kita Social Insurance Hospital   (Japan)

^g UNIVERSITY CHILDREN S HOSPITAL   (Slovenia)

^h YAMAGATA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

3 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; ARGININE TRANSFER RNA LIGASE; HETERODIMER; PHOSPHOGLYCERATE DEHYDROGENASE; PROTEIN; SPECTRIN; SPTAN1 PROTEIN; STXBP1 PROTEIN; UNCLASSIFIED DRUG; VOLTAGE GATED SODIUM CHANNEL; ACTIN BINDING PROTEIN; CARRIER PROTEIN; FODRIN;

BRAIN DISEASE; CARBOXY TERMINAL SEQUENCE; CEREBELLUM ATROPHY; CEREBELLUM DISEASE; CEREBELLUM HYPOPLASIA; CEREBRAL HYPOMYELINATION; CLINICAL ARTICLE; CLINICAL FEATURE; CORPUS CALLOSUM; ELECTROENCEPHALOGRAPHY; ENZYME DEFICIENCY; EPILEPSY; FEMALE; GENE DELETION; GENERALIZED EPILEPSY; GENETIC VARIABILITY; GENOTYPE; HAPLOINSUFFICIENCY; HEREDITARY SPHEROCYTOSIS; HUMAN; HYPSARRHYTHMIA; INFANT; INFANTILE SPASM; INTELLECTUAL IMPAIRMENT; INTRACTABLE EPILEPSY; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MISSENSE MUTATION; MOLYBDENUM COFACTOR DEFICIENCY; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; MYOCLONUS SEIZURE; NUCLEAR MAGNETIC RESONANCE IMAGING; OHTAHARA SYNDROME; OPTIC NERVE ATROPHY; PHENOTYPE; PONTOCEREBELLAR ATROPHY; QUADRIPLEGIA; REVIEW; SPASTIC QUADRIPLEGIA; SPASTIC TETRAPLEGIA; SPTAN1 ENCEPHALOPATHY; TONIC SEIZURE; WHITE MATTER LESION; BRAIN DISEASES; DIFFERENTIAL DIAGNOSIS; DOMINANT GENE; GENETIC ASSOCIATION; GENETICS; METABOLISM; MUTATION; ONSET AGE; SYNDROME;

AGE OF ONSET; BRAIN DISEASES; CARRIER PROTEINS; DIAGNOSIS, DIFFERENTIAL; ELECTROENCEPHALOGRAPHY; EPILEPSY; GENES, DOMINANT; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; MAGNETIC RESONANCE IMAGING; MICROFILAMENT PROTEINS; MUTATION; PHENOTYPE; SPECTRIN; SYNDROME;

EID: 84929075930     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2015.5     Document Type: Review

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