Concepedia

Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations

Kosuke Kohashi, Akihiko Ishiyama, Shota Yuasa, Tomomi Tanaka, Kazushi Miya, Yuichi Adachi, Noriko Sato, Hirotomo Saitsu, Chihiro Ohba, Naomichi Matsumoto,

Brain and Development · 2017 · 33 citations · 7 references

DOI

Concepts

References

7

RESPIRATORY RESPONSES TO STIMULATION OF TEMPORAL POLE, INSULA, AND HIPPOCAMPAL AND LIMBIC GYRI IN MAN

B Kaada · Archives of Neurology And Psychiatry · 1952 · 160 citations

, , +14

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in <i>PIGT</i>

Malin Kvarnung, Daniel Nilsson, Anna Lindstrand et al. · Journal of Medical Genetics · 2013 · 123 citations

, , +17

Vitamin B <sub>6</sub> –responsive epilepsy due to inherited GPI deficiency

Ichiro Kuki, Yukitoshi Takahashi, Shin Okazaki et al. · Neurology · 2013 · 99 citations

, , +17

Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3

Mitsuko Nakashima, Hirofumi Kashii, Yoshiko Murakami et al. · Neurogenetics · 2014 · 69 citations

, , +11

Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors

Christina Lam, Gretchen Golas, Mariska Davids et al. · Molecular Genetics and Metabolism · 2015 · 47 citations · Full text

, , +11