Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations

Neurogenetics

Volumn 15, Issue 1, 2014, Pages 41-48

  Arnedo, Tanit ^a,b   Aiello, Chiara ^c   Jeworutzki, Elena ^d   Dentici, Maria Lisa ^c   Uziel, Graziella ^e   Simonati, Alessandro ^f   Pusch, Michael ^d   Bertini, Enrico ^c   Estévez, Raúl ^a,b  

^a UNIVERSITY OF BARCELONA   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d CNR   (Italy)

^e DEPARTMENT OF NEUROSURGERY   (Italy)

^f UNIVERSITY OF VERONA   (Italy)

Author keywords

ClC 2; GLIALCAM; Leukodystrophy; MLC; MLC1; Remitting phenotype

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CHILD; DEGENERATIVE DISEASE; EXON; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; GLIALCAM GENE; HETEROZYGOTE; HUMAN; HUMAN CELL; MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYST; MISSENSE MUTATION; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SCHOOL CHILD; STOP CODON;

ADOLESCENT; BRAIN; CHILD; CHLORIDE CHANNELS; CODON, TERMINATOR; CYSTS; DNA, COMPLEMENTARY; EXONS; FEMALE; GENE EXPRESSION REGULATION; GENES, DOMINANT; GENES, RECESSIVE; HEK293 CELLS; HELA CELLS; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HETEROZYGOTE; HUMANS; MAGNETIC RESONANCE IMAGING; MUTATION; PATCH-CLAMP TECHNIQUES; PHENOTYPE; PROTEIN STRUCTURE, SECONDARY; PROTEINS; SEQUENCE ANALYSIS, DNA;

EID: 84897954507     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-013-0381-x     Document Type: Article

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