Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly

Journal of Human Genetics

Volumn 59, Issue 12, 2014, Pages 687-690

  Saitsu, Hirotomo ^a   Yamashita, Sumimasa ^b   Tanaka, Yukichi ^b   Tsurusaki, Yoshinori ^a   Nakashima, Mitsuko ^a   Miyake, Noriko ^a   Matsumoto, Naomichi ^a  

^a YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ZONISAMIDE;

APNEA ATTACK; APOPTOSIS; ARTICLE; BRAIN ATROPHY; BRAT1 GENE; CASE REPORT; CEREBELLUM ATROPHY; CHILD; CLONIC SEIZURE; DNA FRAGMENTATION; ELECTROENCEPHALOGRAPHY; EXOME; FACE DYSMORPHIA; FAMILIAL DISEASE; FEMALE; FRAMESHIFT MUTATION; GENE; GLIOSIS; HETEROZYGOSITY; HUMAN; HYPERREFLEXIA; JAPANESE (PEOPLE); LENNOX GASTAUT SYNDROME; MICROCEPHALY; MICROGNATHIA; MUSCLE HYPERTONIA; MUSCLE RIGIDITY; MYOCLONUS SEIZURE; NEUROIMAGING; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; OHTAHARA SYNDROME; OPHTHALMOSCOPY; OPTIC NERVE ATROPHY; PNEUMONIA; PRESCHOOL CHILD; TONIC SEIZURE; WEBBED NECK; WHITE MATTER;

EID: 84923077129     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2014.91     Document Type: Article

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