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García-Cazorla, A., Oyarzabal, A., Fort, J., Robles, C., Castejón, E., Ruiz-Sala, P. and Agulló, S.B. (2014) Two Novel Mutations in the BCKDK (Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients. Human Mutation, 35, 470-477.
http://dx.doi.org/10.1002/humu.22513

has been cited by the following article:

• TITLE: Prospects of Using Platelets as Peripheral Marker to Study the Role of GABA in Autism

  AUTHORS: Saima Khan, Kaneez Fatima-Shad, Hashmet Parveen Ghouse

  KEYWORDS: Autism, GABA, Serotonin, Platelets, Neurotransmitters

  JOURNAL NAME: World Journal of Neuroscience, Vol.4 No.5, November 26, 2014

  ABSTRACT: Literature indicated that platelets could be used as a model for neuronal receptors such as γ-amino butyric acid (GABA) and serotonin. Research work exhibited the presence of low levels of GABA and high levels of serotonin concentration in the platelets of autistic children as compare to their healthy counter parts. There are also other evidences pointing out to the significant role of GABA in autism such as association of g-band frequency with the cortical concentration of GABA and gabapentin (GABA analogue) specifically inhibits the cytosolic branched chain amino transferase (BCATc); an enzyme responsible to modulate glutamate availability for the synthesis of GABA.