A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot

Brain and Development

Volumn 36, Issue 3, 2014, Pages 272-273

  Nakamura, Kazuyuki ^a   Nishiyama, Kiyomi ^a   Kodera, Hirofumi ^a   Nakashima, Mitsuko ^a   Tsurusaki, Yoshinori ^a   Miyake, Noriko ^a   Matsumoto, Naomichi ^a   Saitsu, Hirotomo ^a   Jinnou, Hideo ^b   Ohki, Shigeru ^b   Yokochi, Kenji ^c   Okanishi, Tohru ^b   Enoki, Hideo ^b  

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

^b SEIREI HAMAMATSU GENERAL HOSPITAL   (Japan)

^c SEIREI MIKATAHARA GENERAL HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

EPILEPSIES, MYOCLONIC; FRAMESHIFT MUTATION; GUANYLATE KINASE; HUMANS; MALE; OLIVOPONTOCEREBELLAR ATROPHIES; TETRALOGY OF FALLOT;

EID: 84893839023     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2013.03.007     Document Type: Letter

References (7)

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3. Hsueh Y.P. Calcium/calmodulin-dependent serine protein kinase and mental retardation. Ann Neurol 2009, 66:438-443.
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