infancy electroclinical syndrome

Literature (6)

Literature for DOID 0050703: infancy electroclinical syndrome

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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A functional null mutation of SCN1B in a patient with Dravet syndrome., Patino GA,Claes LR,Lopez-Santiago LF,Slat EA,Dondeti RS,Chen C,O'Malley HA,Gray CB,Miyazaki H,Nukina N,Oyama F,De Jonghe P,Isom LL, J Neurosci. August 26, 2009; 29(34):1529-2401.
Moving gating charges through the gating pore in a Kv channel voltage sensor., Lacroix JJ,Hyde HC,Campos FV,Bezanilla F, Proc Natl Acad Sci U S A. May 13, 2014; 111(19):1091-6490.
Mutations in GABRB3: From febrile seizures to epileptic encephalopathies., Møller RS,Wuttke TV,Helbig I,Marini C,Johannesen KM,Brilstra EH,Vaher U,Borggraefe I,Talvik I,Talvik T,Kluger G,Francois LL,Lesca G,de Bellescize J,Blichfeldt S,Chatron N,Holert N,Jacobs J,Swinkels M,Betzler C,Syrbe S,Nikanorova M,Myers CT,Larsen LH,Vejzovic S,Pendziwiat M,von Spiczak S,Hopkins S,Dubbs H,Mang Y,Mukhin K,Holthausen H,van Gassen KL,Dahl HA,Tommerup N,Mefford HC,Rubboli G,Guerrini R,Lemke JR,Lerche H,Muhle H,Maljevic S, Neurology. January 31, 2017; 88(5):1526-632X.
A novel GABAergic dysfunction in human Dravet syndrome., Ruffolo G,Cifelli P,Roseti C,Thom M,van Vliet EA,Limatola C,Aronica E,Palma E, Epilepsia. November 1, 2018; 59(11):1528-1167.
Coadministered cannabidiol and clobazam: Preclinical evidence for both pharmacodynamic and pharmacokinetic interactions., Anderson LL,Absalom NL,Abelev SV,Low IK,Doohan PT,Martin LJ,Chebib M,McGregor IS,Arnold JC, Epilepsia. November 1, 2019; 60(11):1528-1167.
Characterization of the GABRB2-Associated Neurodevelopmental Disorders., El Achkar CM,Harrer M,Smith L,Kelly M,Iqbal S,Maljevic S,Niturad CE,Vissers LELM,Poduri A,Yang E,Lal D,Lerche H,Møller RS,Olson HE, Ann Neurol. March 1, 2021; 89(3):1531-8249.

A functional null mutation of SCN1B in a patient with Dravet syndrome., Patino GA,Claes LR,Lopez-Santiago LF,Slat EA,Dondeti RS,Chen C,O'Malley HA,Gray CB,Miyazaki H,Nukina N,Oyama F,De Jonghe P,Isom LL, J Neurosci. August 26, 2009; 29(34):1529-2401.

Moving gating charges through the gating pore in a Kv channel voltage sensor., Lacroix JJ,Hyde HC,Campos FV,Bezanilla F, Proc Natl Acad Sci U S A. May 13, 2014; 111(19):1091-6490.

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies., Møller RS,Wuttke TV,Helbig I,Marini C,Johannesen KM,Brilstra EH,Vaher U,Borggraefe I,Talvik I,Talvik T,Kluger G,Francois LL,Lesca G,de Bellescize J,Blichfeldt S,Chatron N,Holert N,Jacobs J,Swinkels M,Betzler C,Syrbe S,Nikanorova M,Myers CT,Larsen LH,Vejzovic S,Pendziwiat M,von Spiczak S,Hopkins S,Dubbs H,Mang Y,Mukhin K,Holthausen H,van Gassen KL,Dahl HA,Tommerup N,Mefford HC,Rubboli G,Guerrini R,Lemke JR,Lerche H,Muhle H,Maljevic S, Neurology. January 31, 2017; 88(5):1526-632X.

A novel GABAergic dysfunction in human Dravet syndrome., Ruffolo G,Cifelli P,Roseti C,Thom M,van Vliet EA,Limatola C,Aronica E,Palma E, Epilepsia. November 1, 2018; 59(11):1528-1167.

Coadministered cannabidiol and clobazam: Preclinical evidence for both pharmacodynamic and pharmacokinetic interactions., Anderson LL,Absalom NL,Abelev SV,Low IK,Doohan PT,Martin LJ,Chebib M,McGregor IS,Arnold JC, Epilepsia. November 1, 2019; 60(11):1528-1167.

Characterization of the GABRB2-Associated Neurodevelopmental Disorders., El Achkar CM,Harrer M,Smith L,Kelly M,Iqbal S,Maljevic S,Niturad CE,Vissers LELM,Poduri A,Yang E,Lal D,Lerche H,Møller RS,Olson HE, Ann Neurol. March 1, 2021; 89(3):1531-8249.