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Academic Journal

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.

Authors : Di Meglio, Chloé¹; Lesca, Gaetan²; Villeneuve, Nathalie¹

Source: Epilepsia (Series 4). Dec2015, Vol. 56 Issue 12, p1931-1940. 10p.

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Academic Journal

DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy.

Authors : Striano, Pasquale¹; Serioli, Elena²; Santulli, Lia³

Source: Epilepsia (Series 4). Oct2015, Vol. 56 Issue 10, pe168-e171. 4p.

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Academic Journal

Mutations in KCNT1 cause a spectrum of focal epilepsies.

Authors : Møller, Rikke S.^1,2; Heron, Sarah E.^3,4; Larsen, Line H. G.⁵

Source: Epilepsia (Series 4). Sep2015, Vol. 56 Issue 9, pe114-e120. 7p.

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Academic Journal

De novo KCNT1 mutations in early-onset epileptic encephalopathy.

Authors : Ohba, Chihiro^1,2; Kato, Mitsuhiro³; Takahashi, Nobuya³

Source: Epilepsia (Series 4). Sep2015, Vol. 56 Issue 9, pe121-e128. 8p.

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Academic Journal

X-linked focal epilepsy with reflex bathing seizures: Characterization of a distinct epileptic syndrome.

Authors : Nguyen, Dang Khoa¹; Rouleau, Isabelle^1,2; Sénéchal, Geneviève²

Source: Epilepsia (Series 4). Jul2015, Vol. 56 Issue 7, p1098-1108. 11p.

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Academic Journal

The incidence of SCN1A-related Dravet syndrome in Denmark is 1:22,000: A population-based study from 2004 to 2009.

Authors : Bayat, Allan¹; Hjalgrim, Helle^2,3; Møller, Rikke S.^2,3

Source: Epilepsia (Series 4). Apr2015, Vol. 56 Issue 4, pe36-e39. 4p.

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Academic Journal

Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.

Authors : Paciorkowski, Alex R.^1,2; McDaniel, Sharon S.³; Jansen, Laura A.⁴

Source: Epilepsia (Series 4). Mar2015, Vol. 56 Issue 3, p422-430. 9p.

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Academic Journal

COMMENTARY: PATHOGENIC EFHCI MUTATIONS ARE TOLERATED IN HEALTHY INDIVIDUALS DEPENDENTONREPORTED ANCESTRY.

Authors : Pal, Deb; Helbig, Ingo

Source: Epilepsia (Series 4). Feb2015, Vol. 56 Issue 2, p195-196. 2p.

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Academic Journal

The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.

Authors : Larsen, Jan¹; Johannesen, Katrine Marie¹; Ek, Jakob²

Source: Epilepsia (Series 4). Dec2015, Vol. 56 Issue 12, pe203-e208. 6p.

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Academic Journal

Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.

Authors : Grinton, Bronwyn E.¹; Heron, Sarah E.^2,3; Pelekanos, James T.^1,4,5

Source: Epilepsia (Series 4). Jul2015, Vol. 56 Issue 7, p1071-1080. 10p.

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