Concepedia

Myoclonic absence epilepsy with photosensitivity and a gain of function mutation in glutamate dehydrogenase

Nadia Bahi‐Buisson, Sandra Sabbagh, Christine Soufflet, Fabienne Escande, Nathalie Boddaert, Vassili Valayannopoulos, Christine Bellané‐Chantelot, Karine Lascelles, Olivier Dulac, Perrine Plouin,

Seizure · 2008 · 49 citations · 14 references

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14

Activating Mutations in the Gene Encoding the ATP-Sensitive Potassium-Channel Subunit Kir6.2 and Permanent Neonatal Diabetes

Anna L. Gloyn, Ewan R. Pearson, Jennifer F. Antcliff et al. · New England Journal of Medicine · 2004 · 1.1K citations

, , +17

Hyperinsulinism and Hyperammonemia in Infants with Regulatory Mutations of the Glutamate Dehydrogenase Gene

Charles A. Stanley, Yen K. Lieu, Betty Y.L. Hsu et al. · New England Journal of Medicine · 1998 · 672 citations · Full text

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Neurologic Outcomes of 90 Neonates and Infants With Persistent Hyperinsulinemic Hypoglycemia

Francesca Menni, Pascale de Lonlay, Caroline Sevin et al. · PEDIATRICS · 2001 · 348 citations

, , +16

Clinical Features of 52 Neonates with Hyperinsulinism

Pascale de Lonlay-Debeney, F Poggi-Travert, Jean‐Christophe Fournet et al. · New England Journal of Medicine · 1999 · 294 citations · Full text

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Specific Changes in Human Brain After Hypoglycemic Injury

Masayuki Fujioka, Kazuo Okuchi, Ken-ichiro Hiramatsu et al. · Stroke · 1997 · 264 citations

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