CCDC88A mutations cause PEHO-like syndrome in humans and mouse

Brain

Volumn 139, Issue 4, 2016, Pages 1036-1044

  Nahorski, Michael S ^a   Asai, Masato ^b   Wakeling, Emma ^c   Parker, Alasdair ^d   Asai, Naoya ^b   Canham, Natalie ^c   Holder, Susan E ^c   Chen, Ya Chun ^a   Dyer, Joshua ^a   Brady, Angela F ^c   Takahashi, Masahide ^b   Woods, C Geoffrey ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c EALING HOSPITAL NHS TRUST   (United Kingdom)

^d ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

epilepsy; girdin; microcephaly; neurodevelopmental disorder; PEHO syndrome

Indexed keywords

CCDC88A PROTEIN; COMPLEMENTARY DNA; PEPTIDES AND PROTEINS; UNCLASSIFIED DRUG; ACTIN BINDING PROTEIN; CCDC88A PROTEIN, HUMAN; VESICULAR TRANSPORT PROTEIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BRAIN EDEMA; CONTROLLED STUDY; CORPUS CALLOSUM; EXOME; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; HOMOZYGOTE; HUMAN; HYPSARRHYTHMIA; LYMPHOCYTE; MESIAL TEMPORAL LOBE EPILEPSY; MICROCEPHALY; MOUSE; NONHUMAN; NONSENSE MEDIATED MRNA DECAY; OPTIC NERVE ATROPHY; PEHO LIKE SYNDROME; PHENOTYPE; PRIORITY JOURNAL; ANIMAL; BRAIN; CASE REPORT; CHILD; FEMALE; GENETICS; INFANT; KNOCKOUT MOUSE; MALE; MUTATION; NEURODEGENERATIVE DISEASES; OPTIC ATROPHY; PATHOLOGY; PEDIGREE; SPASMS, INFANTILE;

ANIMALS; BRAIN; BRAIN EDEMA; CHILD; FEMALE; HUMANS; INFANT; MALE; MICE; MICE, KNOCKOUT; MICROFILAMENT PROTEINS; MUTATION; NEURODEGENERATIVE DISEASES; OPTIC ATROPHY; PEDIGREE; SPASMS, INFANTILE; VESICULAR TRANSPORT PROTEINS;

EID: 84964523801     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/aww014     Document Type: Article

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