Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request

Search Results

Display Settings
Results per page: 10
Sort By: Relevance
Filter
  • 1-10 of  75 results for ""GENETIC mutation""

Your Filters

Publication : epilepsia (series 4) Publisher : wiley-blackwell Subject : spasms Filter by : Subject
Reset filters
Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request
Academic Journal

Mutations in KCNT1 cause a spectrum of focal epilepsies.

Subjects: *GENETIC mutation; *PARTIAL epilepsy; *SODIUM channels

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

Record details

Read More Add to Saved list
×
Academic Journal

Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene.

Subjects: *CHILDHOOD epilepsy; *GENETIC mutation; *SPASMS

  • Source: Epilepsia (Series 4). Aug2012, Vol. 53 Issue 8, p1436-1440. 5p.

Record details

Read More Add to Saved list
×
Academic Journal

A thermoprotective role of the sodium channel β1 subunit is lost with the β1(C121W) mutation.

Subjects: *GENETIC mutation; *SPASMS; *TREATMENT of epilepsy

  • Source: Epilepsia (Series 4). Mar2012, Vol. 53 Issue 3, p494-505. 12p.

Record details

Read More Add to Saved list
×
Academic Journal

Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.

Subjects: *EPILEPSY; *GENETIC mutation; *ELECTROENCEPHALOGRAPHY

  • Source: Epilepsia (Series 4). Oct2011, Vol. 52 Issue 10, p1828-1834. 7p.

Record details

Read More Add to Saved list
×
Academic Journal

A novel GABAergic dysfunction in human Dravet syndrome.

Subjects: DRAVET syndrome; GABAERGIC neurons; SPASMS

  • Source: Epilepsia (Series 4); Nov2018, Vol. 59 Issue 11, p2106-2117, 12p

Record details

Read More Add to Saved list
×
Academic Journal

The three stages of epilepsy in patients with CDKL5 mutations.

Subjects: *EPILEPSY; *GENETIC mutation; *GENETICS

  • Source: Epilepsia (Series 4). Jun2008, Vol. 49 Issue 6, p1027-1037. 11p. 2 Charts.

Record details

Read More Add to Saved list
×
Academic Journal

Scn2a sodium channel mutation results in hyperexcitability in the hippocampus in vitro.

Subjects: *SODIUM channels; *GENETIC mutation; *HIPPOCAMPUS (Brain)

  • Source: Epilepsia (Series 4). Mar2008, Vol. 49 Issue 3, p488-499. 12p. 2 Charts.

Record details

Read More Add to Saved list
×
Academic Journal

Early Visual Seizures and Progressive Myoclonus Epilepsy in Neuronopathic Gaucher Disease Due to a Rare Compound Heterozygosity (N188S/S107L).

Subjects: *GAUCHER'S disease; *GENETIC mutation; *MYOCLONUS

  • Source: Epilepsia (Series 4). Sep2004, Vol. 45 Issue 9, p1154-1157. 4p.

Record details

Read More Add to Saved list
×
Academic Journal

Mice Carrying the Szt1 Mutation Exhibit Increased Seizure Susceptibility and Altered Sensitivity to Compounds Acting at the M-Channel.

Subjects: *GENETIC mutation; *GENETICS; *SPASMS

  • Source: Epilepsia (Series 4). Sep2004, Vol. 45 Issue 9, p1009-1016. 8p.

Record details

Read More Add to Saved list
×
Academic Journal

Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation.

Subjects: ERYTHROCYTE disorders; CHOREA; GENETIC mutation

  • Source: Epilepsia (Series 4); Apr2016, Vol. 57 Issue 4, p549-556, 8p

Record details

Read More Add to Saved list
×
  • 1-10 of  75 results for ""GENETIC mutation""