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CCDC88A mutations cause PEHO-like syndrome in humans and mouse
Michael S. Nahorski
, Masato Asai
, Emma Wakeling
, Alasdair Parker
,
Naoya Asai
, Natalie Canham
, Susan E. Holder
, Ya Chun Chen
, Joshua Dyer
, Angela F. Brady
,
Masahide Takahashi
, C. Geoffrey Woods
Research output
:
Contribution to journal
›
Article
›
peer-review
23
Citations (Scopus)
Overview
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Medicine and Dentistry
Mesial Temporal Lobe Epilepsy
50%
Foot Edema
50%
Hypsarrhythmia
50%
Neuroanatomy
50%
Recessive Gene
50%
Nonsense Mediated mRNA Decay
50%
Optic Nerve Atrophy
50%
Keyphrases
CCDC88A
100%
Human Neurodevelopment
33%
Initial Description
16%
PEHO Syndrome
16%
Pedal Edema
16%
Optic Atrophy
16%
Neuroanatomy
16%
Atypical Case
16%
Infantile Epileptic Encephalopathy
16%
Recessive Genes
16%
Progressive Encephalopathy
16%
Neuroscience
Neuroanatomy
50%
Recessive Gene
50%
Nonsense Mediated mRNA Decay
50%