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Items: 1 to 20 of 107

1.

Autosomal Dominant Partial Epilepsy with Auditory Features.

Ottman R.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2007 Apr 20 [updated 2015 Aug 27].

2.

LGI1 mutations in autosomal dominant partial epilepsy with auditory features.

Ottman R, Winawer MR, Kalachikov S, Barker-Cummings C, Gilliam TC, Pedley TA, Hauser WA.

Neurology. 2004 Apr 13;62(7):1120-6.

3.

KCNQ3-Related Disorders.

Miceli F, Soldovieri MV, Joshi N, Weckhuysen S, Cooper EC, Taglialatela M.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2014 May 22 [updated 2017 Sep 7].

4.

SCN1A-Related Seizure Disorders.

Miller IO, Sotero de Menezes MA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2007 Nov 29 [updated 2014 May 15].

5.

Neuronal Ceroid-Lipofuscinoses.

Mole SE, Williams RE.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2001 Oct 10 [updated 2013 Aug 1].

6.

Familial Hyperinsulinism.

Glaser B.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2003 Aug 19 [updated 2013 Jan 24].

7.

GRIN2A-Related Speech Disorders and Epilepsy.

Myers KA, Scheffer IE.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2016 Sep 29.

8.

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy.

Kurahashi H, Hirose S.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2002 May 16 [updated 2015 Feb 19].

9.

Hypokalemic Periodic Paralysis.

Vicart S, Sternberg D, Arzel-Hézode M, Franques J, Bendahhou S, Lory P, Hainque B, Fournier E, Nicole S, Fontaine B.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2002 Apr 30 [updated 2014 Jul 31].

10.

Glucose Transporter Type 1 Deficiency Syndrome.

Wang D, Pascual JM, De Vivo D.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2002 Jul 30 [updated 2015 Jan 22].

11.

Variegate Porphyria.

Singal AK, Anderson KE.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2013 Feb 14.

12.

Genetic Atypical Hemolytic-Uremic Syndrome.

Noris M, Bresin E, Mele C, Remuzzi G.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2007 Nov 16 [updated 2016 Jun 9].

13.

Congenital Myasthenic Syndromes.

Abicht A, Müller J S, Lochmüller H.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2003 May 9 [updated 2016 Jul 14].

14.

Low penetrance of autosomal dominant lateral temporal epilepsy in Italian families without LGI1 mutations.

Michelucci R, Pasini E, Malacrida S, Striano P, Bonaventura CD, Pulitano P, Bisulli F, Egeo G, Santulli L, Sofia V, Gambardella A, Elia M, de Falco A, Neve Al, Banfi P, Coppola G, Avoni P, Binelli S, Boniver C, Pisano T, Marchini M, Dazzo E, Fanciulli M, Bartolini Y, Riguzzi P, Volpi L, de Falco FA, Giallonardo AT, Mecarelli O, Striano S, Tinuper P, Nobile C.

Epilepsia. 2013 Jul;54(7):1288-97. doi: 10.1111/epi.12194. Epub 2013 Apr 26.

15.

Long QT Syndrome.

Alders M, Christiaans I.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2003 Feb 20 [updated 2015 Jun 18].

16.

Altered language processing in autosomal dominant partial epilepsy with auditory features.

Ottman R, Rosenberger L, Bagic A, Kamberakis K, Ritzl EK, Wohlschlager AM, Shamim S, Sato S, Liew C, Gaillard WD, Wiggs E, Berl MM, Reeves-Tyer P, Baker EH, Butman JA, Theodore WH.

Neurology. 2008 Dec 9;71(24):1973-80. doi: 10.1212/01.wnl.0000336923.29538.5b.

17.

Familial Transthyretin Amyloidosis.

Sekijima Y, Yoshida K, Tokuda T, Ikeda S.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2001 Nov 5 [updated 2012 Jan 26].

18.

Idiopathic partial epilepsy with auditory features (IPEAF): a clinical and genetic study of 53 sporadic cases.

Bisulli F, Tinuper P, Avoni P, Striano P, Striano S, d'Orsi G, Vignatelli L, Bagattin A, Scudellaro E, Florindo I, Nobile C, Tassinari CA, Baruzzi A, Michelucci R.

Brain. 2004 Jun;127(Pt 6):1343-52. Epub 2004 Apr 16. Review.

PMID:
15090473
19.

KCNQ2-Related Disorders.

Miceli F, Soldovieri MV, Joshi N, Weckhuysen S, Cooper E, Taglialatela M.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2010 Apr 27 [updated 2016 Mar 31].

20.

Catecholaminergic Polymorphic Ventricular Tachycardia.

Napolitano C, Priori SG, Bloise R.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2004 Oct 14 [updated 2016 Oct 13].

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